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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: 11-86250379-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=86250379&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 86250379,
"ref": "A",
"alt": "G",
"effect": "synonymous_variant",
"transcript": "NM_001308007.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_003797.5",
"protein_id": "NP_003788.2",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 441,
"cds_start": 198,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000263360.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003797.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "ENST00000263360.11",
"protein_id": "ENSP00000263360.6",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 441,
"cds_start": 198,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003797.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000263360.11"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "ENST00000351625.10",
"protein_id": "ENSP00000338186.5",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 466,
"cds_start": 198,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000351625.10"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "ENST00000327320.8",
"protein_id": "ENSP00000315587.4",
"transcript_support_level": 1,
"aa_start": 66,
"aa_end": null,
"aa_length": 400,
"cds_start": 198,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000327320.8"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.378A>G",
"hgvs_p": "p.Lys126Lys",
"transcript": "ENST00000673233.3",
"protein_id": "ENSP00000500914.2",
"transcript_support_level": null,
"aa_start": 126,
"aa_end": null,
"aa_length": 501,
"cds_start": 378,
"cds_end": null,
"cds_length": 1506,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000673233.3"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001308007.2",
"protein_id": "NP_001294936.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 466,
"cds_start": 198,
"cds_end": null,
"cds_length": 1401,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001308007.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "ENST00000672825.1",
"protein_id": "ENSP00000500834.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 441,
"cds_start": 198,
"cds_end": null,
"cds_length": 1326,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000672825.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440587.1",
"protein_id": "NP_001427516.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 435,
"cds_start": 198,
"cds_end": null,
"cds_length": 1308,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440587.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440588.1",
"protein_id": "NP_001427517.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 428,
"cds_start": 198,
"cds_end": null,
"cds_length": 1287,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440588.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440589.1",
"protein_id": "NP_001427518.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 425,
"cds_start": 198,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440589.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440591.1",
"protein_id": "NP_001427520.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 419,
"cds_start": 198,
"cds_end": null,
"cds_length": 1260,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440591.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440592.1",
"protein_id": "NP_001427521.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 413,
"cds_start": 198,
"cds_end": null,
"cds_length": 1242,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440592.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440594.1",
"protein_id": "NP_001427523.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 410,
"cds_start": 198,
"cds_end": null,
"cds_length": 1233,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440594.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440595.1",
"protein_id": "NP_001427524.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 409,
"cds_start": 198,
"cds_end": null,
"cds_length": 1230,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440595.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.93A>G",
"hgvs_p": "p.Lys31Lys",
"transcript": "ENST00000707108.1",
"protein_id": "ENSP00000516737.1",
"transcript_support_level": null,
"aa_start": 31,
"aa_end": null,
"aa_length": 406,
"cds_start": 93,
"cds_end": null,
"cds_length": 1221,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000707108.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440586.1",
"protein_id": "NP_001427515.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 400,
"cds_start": 198,
"cds_end": null,
"cds_length": 1203,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440586.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440597.1",
"protein_id": "NP_001427526.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 390,
"cds_start": 198,
"cds_end": null,
"cds_length": 1173,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440597.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440599.1",
"protein_id": "NP_001427528.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 377,
"cds_start": 198,
"cds_end": null,
"cds_length": 1134,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440599.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440600.1",
"protein_id": "NP_001427529.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 372,
"cds_start": 198,
"cds_end": null,
"cds_length": 1119,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440600.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001330334.2",
"protein_id": "NP_001317263.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 361,
"cds_start": 198,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001330334.2"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "ENST00000528180.5",
"protein_id": "ENSP00000431778.1",
"transcript_support_level": 5,
"aa_start": 66,
"aa_end": null,
"aa_length": 361,
"cds_start": 198,
"cds_end": null,
"cds_length": 1086,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000528180.5"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EED",
"gene_hgnc_id": 3188,
"hgvs_c": "c.198A>G",
"hgvs_p": "p.Lys66Lys",
"transcript": "NM_001440602.1",
"protein_id": "NP_001427531.1",
"transcript_support_level": null,
"aa_start": 66,
"aa_end": null,
"aa_length": 330,
"cds_start": 198,
"cds_end": null,
"cds_length": 993,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001440602.1"
},
{
"aa_ref": "K",
"aa_alt": "K",
"canonical": false,
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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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],
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"biotype": "retained_intron",
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],
"gene_symbol": "EED",
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"dbsnp": "rs182106684",
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"computational_score_selected": -0.5199999809265137,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.52,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.495,
"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": -17,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BS2",
"acmg_by_gene": [
{
"score": -17,
"benign_score": 17,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001308007.2",
"gene_symbol": "EED",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
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}
],
"clinvar_disease": "Cohen-Gibson syndrome,not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2",
"phenotype_combined": "Cohen-Gibson syndrome|not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}