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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: 12-95049226-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=12&pos=95049226&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "12",
"pos": 95049226,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_003297.4",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "NM_003297.4",
"protein_id": "NP_003288.2",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 603,
"cds_start": 973,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000333003.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003297.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000333003.10",
"protein_id": "ENSP00000333275.4",
"transcript_support_level": 2,
"aa_start": 325,
"aa_end": null,
"aa_length": 603,
"cds_start": 973,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_003297.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000333003.10"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000393101.7",
"protein_id": "ENSP00000376813.3",
"transcript_support_level": 1,
"aa_start": 325,
"aa_end": null,
"aa_length": 467,
"cds_start": 973,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393101.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "n.973G>A",
"hgvs_p": null,
"transcript": "ENST00000545833.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000545833.5"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000922903.1",
"protein_id": "ENSP00000592962.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 647,
"cds_start": 973,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922903.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000922904.1",
"protein_id": "ENSP00000592963.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 647,
"cds_start": 973,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000922904.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000942592.1",
"protein_id": "ENSP00000612651.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 642,
"cds_start": 973,
"cds_end": null,
"cds_length": 1929,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942592.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877191.1",
"protein_id": "ENSP00000547250.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 603,
"cds_start": 973,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877191.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877193.1",
"protein_id": "ENSP00000547252.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 603,
"cds_start": 973,
"cds_end": null,
"cds_length": 1812,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877193.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877190.1",
"protein_id": "ENSP00000547249.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 599,
"cds_start": 973,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877190.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877195.1",
"protein_id": "ENSP00000547254.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 599,
"cds_start": 973,
"cds_end": null,
"cds_length": 1800,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877195.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877189.1",
"protein_id": "ENSP00000547248.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 598,
"cds_start": 973,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877189.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877194.1",
"protein_id": "ENSP00000547253.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 598,
"cds_start": 973,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877194.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877196.1",
"protein_id": "ENSP00000547255.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 594,
"cds_start": 973,
"cds_end": null,
"cds_length": 1785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877196.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877192.1",
"protein_id": "ENSP00000547251.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 557,
"cds_start": 973,
"cds_end": null,
"cds_length": 1674,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877192.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.841G>A",
"hgvs_p": "p.Asp281Asn",
"transcript": "ENST00000942591.1",
"protein_id": "ENSP00000612650.1",
"transcript_support_level": null,
"aa_start": 281,
"aa_end": null,
"aa_length": 554,
"cds_start": 841,
"cds_end": null,
"cds_length": 1665,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000942591.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "NM_001127362.2",
"protein_id": "NP_001120834.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 483,
"cds_start": 973,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001127362.2"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000330677.7",
"protein_id": "ENSP00000328843.7",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 483,
"cds_start": 973,
"cds_end": null,
"cds_length": 1452,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000330677.7"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000877197.1",
"protein_id": "ENSP00000547256.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 475,
"cds_start": 973,
"cds_end": null,
"cds_length": 1428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000877197.1"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "NM_001032287.3",
"protein_id": "NP_001027458.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 467,
"cds_start": 973,
"cds_end": null,
"cds_length": 1404,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001032287.3"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "ENST00000622476.4",
"protein_id": "ENSP00000478728.1",
"transcript_support_level": 5,
"aa_start": 325,
"aa_end": null,
"aa_length": 434,
"cds_start": 973,
"cds_end": null,
"cds_length": 1305,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000622476.4"
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NR2C1",
"gene_hgnc_id": 7971,
"hgvs_c": "c.973G>A",
"hgvs_p": "p.Asp325Asn",
"transcript": "XM_005269133.3",
"protein_id": "XP_005269190.1",
"transcript_support_level": null,
"aa_start": 325,
"aa_end": null,
"aa_length": 598,
"cds_start": 973,
"cds_end": null,
"cds_length": 1797,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}