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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: 7-130023656-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=130023656&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 130023656,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_016478.5",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363His",
"transcript": "NM_016478.5",
"protein_id": "NP_057562.3",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 502,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000358303.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_016478.5"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363His",
"transcript": "ENST00000358303.9",
"protein_id": "ENSP00000351052.4",
"transcript_support_level": 1,
"aa_start": 363,
"aa_end": null,
"aa_length": 502,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1509,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_016478.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000358303.9"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320His",
"transcript": "ENST00000481503.5",
"protein_id": "ENSP00000418533.1",
"transcript_support_level": 5,
"aa_start": 320,
"aa_end": null,
"aa_length": 459,
"cds_start": 959,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481503.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*972G>A",
"hgvs_p": null,
"transcript": "ENST00000467642.5",
"protein_id": "ENSP00000419509.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000467642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1041G>A",
"hgvs_p": null,
"transcript": "ENST00000470651.2",
"protein_id": "ENSP00000420068.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000470651.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*902G>A",
"hgvs_p": null,
"transcript": "ENST00000484432.2",
"protein_id": "ENSP00000417217.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000484432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1098G>A",
"hgvs_p": null,
"transcript": "ENST00000648450.1",
"protein_id": "ENSP00000498166.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000648450.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*972G>A",
"hgvs_p": null,
"transcript": "ENST00000467642.5",
"protein_id": "ENSP00000419509.1",
"transcript_support_level": 2,
"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": "nonsense_mediated_decay",
"feature": "ENST00000467642.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1041G>A",
"hgvs_p": null,
"transcript": "ENST00000470651.2",
"protein_id": "ENSP00000420068.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000470651.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*902G>A",
"hgvs_p": null,
"transcript": "ENST00000484432.2",
"protein_id": "ENSP00000417217.1",
"transcript_support_level": 4,
"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": "nonsense_mediated_decay",
"feature": "ENST00000484432.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "n.*1098G>A",
"hgvs_p": null,
"transcript": "ENST00000648450.1",
"protein_id": "ENSP00000498166.1",
"transcript_support_level": null,
"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": "nonsense_mediated_decay",
"feature": "ENST00000648450.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1130G>A",
"hgvs_p": "p.Arg377His",
"transcript": "ENST00000934846.1",
"protein_id": "ENSP00000604905.1",
"transcript_support_level": null,
"aa_start": 377,
"aa_end": null,
"aa_length": 516,
"cds_start": 1130,
"cds_end": null,
"cds_length": 1551,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934846.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363His",
"transcript": "ENST00000948672.1",
"protein_id": "ENSP00000618731.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 507,
"cds_start": 1088,
"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": "ENST00000948672.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1088G>A",
"hgvs_p": "p.Arg363His",
"transcript": "ENST00000714105.1",
"protein_id": "ENSP00000519397.1",
"transcript_support_level": null,
"aa_start": 363,
"aa_end": null,
"aa_length": 482,
"cds_start": 1088,
"cds_end": null,
"cds_length": 1449,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714105.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"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": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1025G>A",
"hgvs_p": "p.Arg342His",
"transcript": "NM_001282190.2",
"protein_id": "NP_001269119.1",
"transcript_support_level": null,
"aa_start": 342,
"aa_end": null,
"aa_length": 481,
"cds_start": 1025,
"cds_end": null,
"cds_length": 1446,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282190.2"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.1004G>A",
"hgvs_p": "p.Arg335His",
"transcript": "ENST00000869172.1",
"protein_id": "ENSP00000539231.1",
"transcript_support_level": null,
"aa_start": 335,
"aa_end": null,
"aa_length": 474,
"cds_start": 1004,
"cds_end": null,
"cds_length": 1425,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000869172.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.995G>A",
"hgvs_p": "p.Arg332His",
"transcript": "ENST00000934848.1",
"protein_id": "ENSP00000604907.1",
"transcript_support_level": null,
"aa_start": 332,
"aa_end": null,
"aa_length": 471,
"cds_start": 995,
"cds_end": null,
"cds_length": 1416,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934848.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.959G>A",
"hgvs_p": "p.Arg320His",
"transcript": "NM_001363701.1",
"protein_id": "NP_001350630.1",
"transcript_support_level": null,
"aa_start": 320,
"aa_end": null,
"aa_length": 459,
"cds_start": 959,
"cds_end": null,
"cds_length": 1380,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363701.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.953G>A",
"hgvs_p": "p.Arg318His",
"transcript": "ENST00000948673.1",
"protein_id": "ENSP00000618732.1",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 457,
"cds_start": 953,
"cds_end": null,
"cds_length": 1374,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948673.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.689G>A",
"hgvs_p": "p.Arg230His",
"transcript": "ENST00000934847.1",
"protein_id": "ENSP00000604906.1",
"transcript_support_level": null,
"aa_start": 230,
"aa_end": null,
"aa_length": 369,
"cds_start": 689,
"cds_end": null,
"cds_length": 1110,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934847.1"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.887G>A",
"hgvs_p": "p.Arg296His",
"transcript": "XM_011516288.4",
"protein_id": "XP_011514590.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 435,
"cds_start": 887,
"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": "XM_011516288.4"
},
{
"aa_ref": "R",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ZC3HC1",
"gene_hgnc_id": 29913,
"hgvs_c": "c.758G>A",
"hgvs_p": "p.Arg253His",
"transcript": "XM_047420453.1",
"protein_id": "XP_047276409.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 392,
"cds_start": 758,
"cds_end": null,
"cds_length": 1179,
"cdna_start": null,
"cdna_end": null,
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}
],
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}