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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: 2-74490436-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=74490436&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 74490436,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_022492.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_022492.6",
"protein_id": "NP_071937.4",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 519,
"cds_start": 425,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "ENST00000233623.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "ENST00000233623.11",
"protein_id": "ENSP00000233623.6",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 519,
"cds_start": 425,
"cds_end": null,
"cds_length": 1560,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2916,
"mane_select": "NM_022492.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "ENST00000410003.5",
"protein_id": "ENSP00000387213.1",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 340,
"cds_start": 425,
"cds_end": null,
"cds_length": 1023,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 3358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"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": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "ENST00000442235.6",
"protein_id": "ENSP00000416823.3",
"transcript_support_level": 1,
"aa_start": 142,
"aa_end": null,
"aa_length": 285,
"cds_start": 425,
"cds_end": null,
"cds_length": 858,
"cdna_start": 434,
"cdna_end": null,
"cdna_length": 958,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.322A>G",
"hgvs_p": null,
"transcript": "ENST00000424122.5",
"protein_id": "ENSP00000388495.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2806,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.434A>G",
"hgvs_p": null,
"transcript": "ENST00000464241.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1562,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_001376129.1",
"protein_id": "NP_001363058.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 537,
"cds_start": 425,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2970,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_001376130.1",
"protein_id": "NP_001363059.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 518,
"cds_start": 425,
"cds_end": null,
"cds_length": 1557,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2913,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_001376132.1",
"protein_id": "NP_001363061.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 517,
"cds_start": 425,
"cds_end": null,
"cds_length": 1554,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_001376133.1",
"protein_id": "NP_001363062.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 516,
"cds_start": 425,
"cds_end": null,
"cds_length": 1551,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2907,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"transcript": "NM_001376134.1",
"protein_id": "NP_001363063.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 448,
"cds_start": 212,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"transcript": "NM_001376135.1",
"protein_id": "NP_001363064.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 446,
"cds_start": 212,
"cds_end": null,
"cds_length": 1341,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 2960,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_001376136.1",
"protein_id": "NP_001363065.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 424,
"cds_start": 425,
"cds_end": null,
"cds_length": 1275,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2857,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "NM_001376137.1",
"protein_id": "NP_001363066.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 423,
"cds_start": 425,
"cds_end": null,
"cds_length": 1272,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2854,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "XM_011533035.2",
"protein_id": "XP_011531337.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 539,
"cds_start": 425,
"cds_end": null,
"cds_length": 1620,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 2976,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"transcript": "XM_047445417.1",
"protein_id": "XP_047301373.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 468,
"cds_start": 212,
"cds_end": null,
"cds_length": 1407,
"cdna_start": 412,
"cdna_end": null,
"cdna_length": 2948,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"transcript": "XM_047445418.1",
"protein_id": "XP_047301374.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 466,
"cds_start": 212,
"cds_end": null,
"cds_length": 1401,
"cdna_start": 397,
"cdna_end": null,
"cdna_length": 2927,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.212A>G",
"hgvs_p": "p.Gln71Arg",
"transcript": "XM_047445419.1",
"protein_id": "XP_047301375.1",
"transcript_support_level": null,
"aa_start": 71,
"aa_end": null,
"aa_length": 448,
"cds_start": 212,
"cds_end": null,
"cds_length": 1347,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 2914,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "XM_047445422.1",
"protein_id": "XP_047301378.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 350,
"cds_start": 425,
"cds_end": null,
"cds_length": 1053,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1189,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "XM_047445423.1",
"protein_id": "XP_047301379.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 330,
"cds_start": 425,
"cds_end": null,
"cds_length": 993,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1098,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "c.425A>G",
"hgvs_p": "p.Gln142Arg",
"transcript": "XM_047445424.1",
"protein_id": "XP_047301380.1",
"transcript_support_level": null,
"aa_start": 142,
"aa_end": null,
"aa_length": 328,
"cds_start": 425,
"cds_end": null,
"cds_length": 987,
"cdna_start": 440,
"cdna_end": null,
"cdna_length": 1092,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.322A>G",
"hgvs_p": null,
"transcript": "ENST00000449459.5",
"protein_id": "ENSP00000389127.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2161,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TTC31",
"gene_hgnc_id": 25759,
"hgvs_c": "n.536A>G",
"hgvs_p": null,
"transcript": "ENST00000459957.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
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"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
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}