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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: 2-174399952-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=174399952&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 174399952,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_001412210.1",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_024583.5",
"protein_id": "NP_078859.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": "ENST00000272732.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_024583.5"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000272732.11",
"protein_id": "ENSP00000272732.6",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 287,
"cdna_end": null,
"cdna_length": 3052,
"mane_select": "NM_024583.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000272732.11"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.250G>C",
"hgvs_p": "p.Glu84Gln",
"transcript": "NM_001412210.1",
"protein_id": "NP_001399139.1",
"transcript_support_level": null,
"aa_start": 84,
"aa_end": null,
"aa_length": 444,
"cds_start": 250,
"cds_end": null,
"cds_length": 1335,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 3957,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412210.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412202.1",
"protein_id": "NP_001399131.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1345,
"cdna_end": null,
"cdna_length": 4606,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412202.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412203.1",
"protein_id": "NP_001399132.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 763,
"cdna_end": null,
"cdna_length": 4024,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412203.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412204.1",
"protein_id": "NP_001399133.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 801,
"cdna_end": null,
"cdna_length": 4062,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412204.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412205.1",
"protein_id": "NP_001399134.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 459,
"cdna_end": null,
"cdna_length": 3720,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412205.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412206.1",
"protein_id": "NP_001399135.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 356,
"cdna_end": null,
"cdna_length": 3617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412206.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412207.1",
"protein_id": "NP_001399136.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 3962,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412207.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "NM_001412208.1",
"protein_id": "NP_001399137.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 832,
"cdna_end": null,
"cdna_length": 4093,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001412208.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877601.1",
"protein_id": "ENSP00000547660.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 802,
"cdna_end": null,
"cdna_length": 4063,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877601.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877602.1",
"protein_id": "ENSP00000547661.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 697,
"cdna_end": null,
"cdna_length": 3958,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877602.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877603.1",
"protein_id": "ENSP00000547662.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1862,
"cdna_end": null,
"cdna_length": 5129,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877603.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877604.1",
"protein_id": "ENSP00000547663.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 750,
"cdna_end": null,
"cdna_length": 4010,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877604.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877605.1",
"protein_id": "ENSP00000547664.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 1307,
"cdna_end": null,
"cdna_length": 3500,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877605.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877607.1",
"protein_id": "ENSP00000547666.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 817,
"cdna_end": null,
"cdna_length": 2225,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877607.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877608.1",
"protein_id": "ENSP00000547667.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 393,
"cdna_end": null,
"cdna_length": 1825,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877608.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000968051.1",
"protein_id": "ENSP00000638110.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 3710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968051.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000968053.1",
"protein_id": "ENSP00000638112.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 424,
"cds_start": 190,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 856,
"cdna_end": null,
"cdna_length": 2288,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968053.1"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.169G>C",
"hgvs_p": "p.Glu57Gln",
"transcript": "NM_001193528.2",
"protein_id": "NP_001180457.1",
"transcript_support_level": null,
"aa_start": 57,
"aa_end": null,
"aa_length": 417,
"cds_start": 169,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 196,
"cdna_end": null,
"cdna_length": 2961,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193528.2"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.169G>C",
"hgvs_p": "p.Glu57Gln",
"transcript": "ENST00000409673.7",
"protein_id": "ENSP00000387142.3",
"transcript_support_level": 2,
"aa_start": 57,
"aa_end": null,
"aa_length": 417,
"cds_start": 169,
"cds_end": null,
"cds_length": 1254,
"cdna_start": 181,
"cdna_end": null,
"cdna_length": 1788,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000409673.7"
},
{
"aa_ref": "E",
"aa_alt": "Q",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCRN3",
"gene_hgnc_id": 30382,
"hgvs_c": "c.190G>C",
"hgvs_p": "p.Glu64Gln",
"transcript": "ENST00000877606.1",
"protein_id": "ENSP00000547665.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 383,
"cds_start": 190,
"cds_end": null,
"cds_length": 1152,
"cdna_start": 288,
"cdna_end": null,
"cdna_length": 1573,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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{
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{
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{
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{
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],
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{
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{
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],
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],
"gene_symbol": "SCRN3",
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"dbsnp": "rs145224923",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 7,
"gnomad_exomes_af": 0,
"gnomad_genomes_af": 0.000049043,
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"gnomad_genomes_ac": 7,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09154513478279114,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.019,
"revel_prediction": "Benign",
"alphamissense_score": 0.0794,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.57,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.888,
"phylop100way_prediction": "Benign",
"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_001412210.1",
"gene_symbol": "SCRN3",
"hgnc_id": 30382,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.250G>C",
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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
}