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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: 3-195294748-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=195294748&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 195294748,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_012287.6",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"transcript": "NM_012287.6",
"protein_id": "NP_036419.3",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 778,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326793.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012287.6"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"transcript": "ENST00000326793.11",
"protein_id": "ENSP00000324287.6",
"transcript_support_level": 1,
"aa_start": 579,
"aa_end": null,
"aa_length": 778,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2337,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_012287.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326793.11"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1925C>T",
"hgvs_p": "p.Thr642Met",
"transcript": "ENST00000867120.1",
"protein_id": "ENSP00000537179.1",
"transcript_support_level": null,
"aa_start": 642,
"aa_end": null,
"aa_length": 841,
"cds_start": 1925,
"cds_end": null,
"cds_length": 2526,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867120.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1841C>T",
"hgvs_p": "p.Thr614Met",
"transcript": "ENST00000867114.1",
"protein_id": "ENSP00000537173.1",
"transcript_support_level": null,
"aa_start": 614,
"aa_end": null,
"aa_length": 813,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2442,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867114.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1841C>T",
"hgvs_p": "p.Thr614Met",
"transcript": "ENST00000450200.2",
"protein_id": "ENSP00000412338.2",
"transcript_support_level": 5,
"aa_start": 614,
"aa_end": null,
"aa_length": 808,
"cds_start": 1841,
"cds_end": null,
"cds_length": 2427,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450200.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1820C>T",
"hgvs_p": "p.Thr607Met",
"transcript": "ENST00000867112.1",
"protein_id": "ENSP00000537171.1",
"transcript_support_level": null,
"aa_start": 607,
"aa_end": null,
"aa_length": 806,
"cds_start": 1820,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867112.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1751C>T",
"hgvs_p": "p.Thr584Met",
"transcript": "ENST00000957235.1",
"protein_id": "ENSP00000627294.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 783,
"cds_start": 1751,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957235.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1736C>T",
"hgvs_p": "p.Thr579Met",
"transcript": "ENST00000867115.1",
"protein_id": "ENSP00000537174.1",
"transcript_support_level": null,
"aa_start": 579,
"aa_end": null,
"aa_length": 777,
"cds_start": 1736,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867115.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"transcript": "ENST00000867116.1",
"protein_id": "ENSP00000537175.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 777,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867116.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1733C>T",
"hgvs_p": "p.Thr578Met",
"transcript": "ENST00000957234.1",
"protein_id": "ENSP00000627293.1",
"transcript_support_level": null,
"aa_start": 578,
"aa_end": null,
"aa_length": 777,
"cds_start": 1733,
"cds_end": null,
"cds_length": 2334,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957234.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1712C>T",
"hgvs_p": "p.Thr571Met",
"transcript": "ENST00000867117.1",
"protein_id": "ENSP00000537176.1",
"transcript_support_level": null,
"aa_start": 571,
"aa_end": null,
"aa_length": 770,
"cds_start": 1712,
"cds_end": null,
"cds_length": 2313,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867117.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1700C>T",
"hgvs_p": "p.Thr567Met",
"transcript": "ENST00000912823.1",
"protein_id": "ENSP00000582882.1",
"transcript_support_level": null,
"aa_start": 567,
"aa_end": null,
"aa_length": 766,
"cds_start": 1700,
"cds_end": null,
"cds_length": 2301,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912823.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1691C>T",
"hgvs_p": "p.Thr564Met",
"transcript": "ENST00000912824.1",
"protein_id": "ENSP00000582883.1",
"transcript_support_level": null,
"aa_start": 564,
"aa_end": null,
"aa_length": 763,
"cds_start": 1691,
"cds_end": null,
"cds_length": 2292,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000912824.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1682C>T",
"hgvs_p": "p.Thr561Met",
"transcript": "ENST00000867113.1",
"protein_id": "ENSP00000537172.1",
"transcript_support_level": null,
"aa_start": 561,
"aa_end": null,
"aa_length": 760,
"cds_start": 1682,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867113.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1661C>T",
"hgvs_p": "p.Thr554Met",
"transcript": "ENST00000957238.1",
"protein_id": "ENSP00000627297.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 753,
"cds_start": 1661,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "ENST00000957238.1"
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
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"exon_count": 22,
"intron_rank": null,
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"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1640C>T",
"hgvs_p": "p.Thr547Met",
"transcript": "ENST00000867119.1",
"protein_id": "ENSP00000537178.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 746,
"cds_start": 1640,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867119.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1562C>T",
"hgvs_p": "p.Thr521Met",
"transcript": "ENST00000867118.1",
"protein_id": "ENSP00000537177.1",
"transcript_support_level": null,
"aa_start": 521,
"aa_end": null,
"aa_length": 720,
"cds_start": 1562,
"cds_end": null,
"cds_length": 2163,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867118.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1520C>T",
"hgvs_p": "p.Thr507Met",
"transcript": "ENST00000957236.1",
"protein_id": "ENSP00000627295.1",
"transcript_support_level": null,
"aa_start": 507,
"aa_end": null,
"aa_length": 706,
"cds_start": 1520,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957236.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1457C>T",
"hgvs_p": "p.Thr486Met",
"transcript": "ENST00000957237.1",
"protein_id": "ENSP00000627296.1",
"transcript_support_level": null,
"aa_start": 486,
"aa_end": null,
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"cds_start": 1457,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000957237.1"
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.62C>T",
"hgvs_p": "p.Thr21Met",
"transcript": "ENST00000466876.2",
"protein_id": "ENSP00000500381.1",
"transcript_support_level": 3,
"aa_start": 21,
"aa_end": null,
"aa_length": 215,
"cds_start": 62,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000466876.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Thr649Met",
"transcript": "XM_017006046.2",
"protein_id": "XP_016861535.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 848,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2547,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017006046.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ACAP2",
"gene_hgnc_id": 16469,
"hgvs_c": "c.1946C>T",
"hgvs_p": "p.Thr649Met",
"transcript": "XM_047447834.1",
"protein_id": "XP_047303790.1",
"transcript_support_level": null,
"aa_start": 649,
"aa_end": null,
"aa_length": 843,
"cds_start": 1946,
"cds_end": null,
"cds_length": 2532,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}