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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: 10-96019258-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=96019258&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 96019258,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001349008.3",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3686C>G",
"hgvs_p": "p.Pro1229Arg",
"transcript": "NM_001349008.3",
"protein_id": "NP_001335937.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000646931.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349008.3"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3686C>G",
"hgvs_p": "p.Pro1229Arg",
"transcript": "ENST00000646931.3",
"protein_id": "ENSP00000496666.2",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001349008.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000646931.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.742C>G",
"hgvs_p": null,
"transcript": "ENST00000344386.4",
"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": "ENST00000344386.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.2748G>C",
"hgvs_p": null,
"transcript": "ENST00000458228.6",
"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": "ENST00000458228.6"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2786C>G",
"hgvs_p": "p.Pro929Arg",
"transcript": "ENST00000636965.1",
"protein_id": "ENSP00000490447.1",
"transcript_support_level": 5,
"aa_start": 929,
"aa_end": null,
"aa_length": 1058,
"cds_start": 2786,
"cds_end": null,
"cds_length": 3177,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000636965.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.578C>G",
"hgvs_p": "p.Pro193Arg",
"transcript": "NM_001159747.2",
"protein_id": "NP_001153219.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 401,
"cds_start": 578,
"cds_end": null,
"cds_length": 1206,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001159747.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.578C>G",
"hgvs_p": "p.Pro193Arg",
"transcript": "NM_001001732.4",
"protein_id": "NP_001001732.2",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 322,
"cds_start": 578,
"cds_end": null,
"cds_length": 969,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001001732.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 35,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3686C>G",
"hgvs_p": "p.Pro1229Arg",
"transcript": "XM_024447995.2",
"protein_id": "XP_024303763.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1437,
"cds_start": 3686,
"cds_end": null,
"cds_length": 4314,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447995.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 32,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3662C>G",
"hgvs_p": "p.Pro1221Arg",
"transcript": "XM_024447996.2",
"protein_id": "XP_024303764.1",
"transcript_support_level": null,
"aa_start": 1221,
"aa_end": null,
"aa_length": 1429,
"cds_start": 3662,
"cds_end": null,
"cds_length": 4290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447996.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3572C>G",
"hgvs_p": "p.Pro1191Arg",
"transcript": "XM_024447998.2",
"protein_id": "XP_024303766.1",
"transcript_support_level": null,
"aa_start": 1191,
"aa_end": null,
"aa_length": 1399,
"cds_start": 3572,
"cds_end": null,
"cds_length": 4200,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447998.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3557C>G",
"hgvs_p": "p.Pro1186Arg",
"transcript": "XM_024447999.2",
"protein_id": "XP_024303767.1",
"transcript_support_level": null,
"aa_start": 1186,
"aa_end": null,
"aa_length": 1394,
"cds_start": 3557,
"cds_end": null,
"cds_length": 4185,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024447999.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 34,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3503C>G",
"hgvs_p": "p.Pro1168Arg",
"transcript": "XM_024448001.2",
"protein_id": "XP_024303769.1",
"transcript_support_level": null,
"aa_start": 1168,
"aa_end": null,
"aa_length": 1376,
"cds_start": 3503,
"cds_end": null,
"cds_length": 4131,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448001.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3686C>G",
"hgvs_p": "p.Pro1229Arg",
"transcript": "XM_024448002.2",
"protein_id": "XP_024303770.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3912,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448002.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3686C>G",
"hgvs_p": "p.Pro1229Arg",
"transcript": "XM_024448003.2",
"protein_id": "XP_024303771.1",
"transcript_support_level": null,
"aa_start": 1229,
"aa_end": null,
"aa_length": 1297,
"cds_start": 3686,
"cds_end": null,
"cds_length": 3894,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448003.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3209C>G",
"hgvs_p": "p.Pro1070Arg",
"transcript": "XM_024448004.2",
"protein_id": "XP_024303772.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 1278,
"cds_start": 3209,
"cds_end": null,
"cds_length": 3837,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448004.2"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3125C>G",
"hgvs_p": "p.Pro1042Arg",
"transcript": "XM_011539789.4",
"protein_id": "XP_011538091.2",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1250,
"cds_start": 3125,
"cds_end": null,
"cds_length": 3753,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011539789.4"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2855C>G",
"hgvs_p": "p.Pro952Arg",
"transcript": "XM_047425225.1",
"protein_id": "XP_047281181.1",
"transcript_support_level": null,
"aa_start": 952,
"aa_end": null,
"aa_length": 1160,
"cds_start": 2855,
"cds_end": null,
"cds_length": 3483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425225.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2678C>G",
"hgvs_p": "p.Pro893Arg",
"transcript": "XM_047425226.1",
"protein_id": "XP_047281182.1",
"transcript_support_level": null,
"aa_start": 893,
"aa_end": null,
"aa_length": 1101,
"cds_start": 2678,
"cds_end": null,
"cds_length": 3306,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425226.1"
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.2564C>G",
"hgvs_p": "p.Pro855Arg",
"transcript": "XM_047425227.1",
"protein_id": "XP_047281183.1",
"transcript_support_level": null,
"aa_start": 855,
"aa_end": null,
"aa_length": 1063,
"cds_start": 2564,
"cds_end": null,
"cds_length": 3192,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047425227.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": 26,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "c.3046-5595C>G",
"hgvs_p": null,
"transcript": "XM_024448005.2",
"protein_id": "XP_024303773.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1156,
"cds_start": null,
"cds_end": null,
"cds_length": 3471,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024448005.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CC2D2B",
"gene_hgnc_id": 31666,
"hgvs_c": "n.789C>G",
"hgvs_p": null,
"transcript": "ENST00000410012.7",
"protein_id": null,
"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": "pseudogene",
"feature": "ENST00000410012.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "ENTPD1-AS1",
"gene_hgnc_id": 45203,
"hgvs_c": "n.275+70008G>C",
"hgvs_p": null,
"transcript": "ENST00000416301.5",
"protein_id": null,
"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,
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{
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}