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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 12-121423391-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=121423391&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 121423391,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_194271.3",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Glu312Lys",
"transcript": "NM_025126.4",
"protein_id": "NP_079402.2",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 372,
"cds_start": 934,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000361234.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_025126.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Glu312Lys",
"transcript": "ENST00000361234.10",
"protein_id": "ENSP00000355137.5",
"transcript_support_level": 1,
"aa_start": 312,
"aa_end": null,
"aa_length": 372,
"cds_start": 934,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_025126.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000361234.10"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.934G>A",
"hgvs_p": "p.Glu312Lys",
"transcript": "ENST00000392464.3",
"protein_id": "ENSP00000376257.2",
"transcript_support_level": 5,
"aa_start": 312,
"aa_end": null,
"aa_length": 507,
"cds_start": 934,
"cds_end": null,
"cds_length": 1524,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392464.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "NM_001394208.1",
"protein_id": "NP_001381137.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 373,
"cds_start": 937,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394208.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "NM_194271.3",
"protein_id": "NP_919247.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 373,
"cds_start": 937,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_194271.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys",
"transcript": "ENST00000392465.7",
"protein_id": "ENSP00000376258.3",
"transcript_support_level": 5,
"aa_start": 313,
"aa_end": null,
"aa_length": 373,
"cds_start": 937,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000392465.7"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Glu281Lys",
"transcript": "ENST00000964569.1",
"protein_id": "ENSP00000634628.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 341,
"cds_start": 841,
"cds_end": null,
"cds_length": 1026,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000964569.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Glu239Lys",
"transcript": "ENST00000867130.1",
"protein_id": "ENSP00000537189.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 299,
"cds_start": 715,
"cds_end": null,
"cds_length": 900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867130.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.577G>A",
"hgvs_p": "p.Glu193Lys",
"transcript": "ENST00000867133.1",
"protein_id": "ENSP00000537191.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 253,
"cds_start": 577,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867133.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.526G>A",
"hgvs_p": "p.Glu176Lys",
"transcript": "ENST00000917689.1",
"protein_id": "ENSP00000587748.1",
"transcript_support_level": null,
"aa_start": 176,
"aa_end": null,
"aa_length": 236,
"cds_start": 526,
"cds_end": null,
"cds_length": 711,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000917689.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Glu120Lys",
"transcript": "NM_001256858.2",
"protein_id": "NP_001243787.1",
"transcript_support_level": null,
"aa_start": 120,
"aa_end": null,
"aa_length": 180,
"cds_start": 358,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001256858.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.358G>A",
"hgvs_p": "p.Glu120Lys",
"transcript": "ENST00000613529.4",
"protein_id": "ENSP00000477987.1",
"transcript_support_level": 2,
"aa_start": 120,
"aa_end": null,
"aa_length": 180,
"cds_start": 358,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000613529.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.307G>A",
"hgvs_p": "p.Glu103Lys",
"transcript": "ENST00000867131.1",
"protein_id": "ENSP00000537190.1",
"transcript_support_level": null,
"aa_start": 103,
"aa_end": null,
"aa_length": 163,
"cds_start": 307,
"cds_end": null,
"cds_length": 492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867131.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"transcript": "XM_024449191.2",
"protein_id": "XP_024304959.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 365,
"cds_start": 913,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024449191.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.913G>A",
"hgvs_p": "p.Glu305Lys",
"transcript": "XM_047429564.1",
"protein_id": "XP_047285520.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 365,
"cds_start": 913,
"cds_end": null,
"cds_length": 1098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429564.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNF34",
"gene_hgnc_id": 17297,
"hgvs_c": "c.12G>A",
"hgvs_p": "p.Ala4Ala",
"transcript": "ENST00000555076.1",
"protein_id": "ENSP00000452200.1",
"transcript_support_level": 3,
"aa_start": 4,
"aa_end": null,
"aa_length": 45,
"cds_start": 12,
"cds_end": null,
"cds_length": 138,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000555076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3966+6951C>T",
"hgvs_p": null,
"transcript": "XM_011538867.4",
"protein_id": "XP_011537169.2",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1399,
"cds_start": null,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011538867.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3957+6951C>T",
"hgvs_p": null,
"transcript": "XM_047429681.1",
"protein_id": "XP_047285637.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1396,
"cds_start": null,
"cds_end": null,
"cds_length": 4191,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429681.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3894+6951C>T",
"hgvs_p": null,
"transcript": "XM_047429682.1",
"protein_id": "XP_047285638.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1375,
"cds_start": null,
"cds_end": null,
"cds_length": 4128,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429682.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3873+6951C>T",
"hgvs_p": null,
"transcript": "XM_047429683.1",
"protein_id": "XP_047285639.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1368,
"cds_start": null,
"cds_end": null,
"cds_length": 4107,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429683.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3864+6951C>T",
"hgvs_p": null,
"transcript": "XM_047429684.1",
"protein_id": "XP_047285640.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1365,
"cds_start": null,
"cds_end": null,
"cds_length": 4098,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429684.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": 23,
"intron_rank_end": null,
"gene_symbol": "KDM2B",
"gene_hgnc_id": 13610,
"hgvs_c": "c.3855+6951C>T",
"hgvs_p": null,
"transcript": "XM_047429688.1",
"protein_id": "XP_047285644.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1362,
"cds_start": null,
"cds_end": null,
"cds_length": 4089,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047429688.1"
},
{
"aa_ref": null,
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{
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{
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{
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{
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{
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"feature": "XM_047429717.1"
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{
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"strand": true,
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],
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"gene_symbol": "RNF34",
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{
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"strand": true,
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],
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"gene_symbol": "RNF34",
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"hgvs_c": "n.1242G>A",
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"transcript": "NR_172087.1",
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"biotype": "pseudogene",
"feature": "NR_172087.1"
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],
"gene_symbol": "RNF34",
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"dbsnp": "rs782650665",
"frequency_reference_population": 0.000009356299,
"hom_count_reference_population": 0,
"allele_count_reference_population": 15,
"gnomad_exomes_af": 0.00000964852,
"gnomad_genomes_af": 0.00000657039,
"gnomad_exomes_ac": 14,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.17699986696243286,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.143,
"revel_prediction": "Benign",
"alphamissense_score": 0.13,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.3,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 9.54,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_194271.3",
"gene_symbol": "RNF34",
"hgnc_id": 17297,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.937G>A",
"hgvs_p": "p.Glu313Lys"
},
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "XM_011538867.4",
"gene_symbol": "KDM2B",
"hgnc_id": 13610,
"effects": [
"intron_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3966+6951C>T",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}