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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: 4-109463267-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=109463267&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 109463267,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001300813.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "NM_006323.5",
"protein_id": "NP_006314.2",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1268,
"cds_start": 500,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265175.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006323.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000265175.5",
"protein_id": "ENSP00000265175.4",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1268,
"cds_start": 500,
"cds_end": null,
"cds_length": 3807,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006323.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265175.5"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "ENST00000504968.6",
"protein_id": "ENSP00000428564.1",
"transcript_support_level": 1,
"aa_start": 198,
"aa_end": null,
"aa_length": 1298,
"cds_start": 593,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000504968.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000399100.6",
"protein_id": "ENSP00000382051.2",
"transcript_support_level": 1,
"aa_start": 167,
"aa_end": null,
"aa_length": 1233,
"cds_start": 500,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000399100.6"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "ENST00000898583.1",
"protein_id": "ENSP00000568642.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1299,
"cds_start": 593,
"cds_end": null,
"cds_length": 3900,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898583.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "NM_001300813.3",
"protein_id": "NP_001287742.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1298,
"cds_start": 593,
"cds_end": null,
"cds_length": 3897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001300813.3"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000934097.1",
"protein_id": "ENSP00000604156.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1284,
"cds_start": 500,
"cds_end": null,
"cds_length": 3855,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934097.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "ENST00000898588.1",
"protein_id": "ENSP00000568647.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1272,
"cds_start": 593,
"cds_end": null,
"cds_length": 3819,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898588.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "NM_001318085.2",
"protein_id": "NP_001305014.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1267,
"cds_start": 500,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318085.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000898581.1",
"protein_id": "ENSP00000568640.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1267,
"cds_start": 500,
"cds_end": null,
"cds_length": 3804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898581.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000950647.1",
"protein_id": "ENSP00000620706.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1265,
"cds_start": 500,
"cds_end": null,
"cds_length": 3798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950647.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "ENST00000898587.1",
"protein_id": "ENSP00000568646.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1264,
"cds_start": 593,
"cds_end": null,
"cds_length": 3795,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898587.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "ENST00000898586.1",
"protein_id": "ENSP00000568645.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1263,
"cds_start": 593,
"cds_end": null,
"cds_length": 3792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898586.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp",
"transcript": "ENST00000934099.1",
"protein_id": "ENSP00000604158.1",
"transcript_support_level": null,
"aa_start": 198,
"aa_end": null,
"aa_length": 1249,
"cds_start": 593,
"cds_end": null,
"cds_length": 3750,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934099.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000950646.1",
"protein_id": "ENSP00000620705.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1241,
"cds_start": 500,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950646.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000950644.1",
"protein_id": "ENSP00000620703.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1240,
"cds_start": 500,
"cds_end": null,
"cds_length": 3723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000950644.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "NM_001042734.4",
"protein_id": "NP_001036199.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1233,
"cds_start": 500,
"cds_end": null,
"cds_length": 3702,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001042734.4"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "NM_001318086.2",
"protein_id": "NP_001305015.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1232,
"cds_start": 500,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318086.2"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000898580.1",
"protein_id": "ENSP00000568639.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1232,
"cds_start": 500,
"cds_end": null,
"cds_length": 3699,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898580.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000898591.1",
"protein_id": "ENSP00000568650.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1218,
"cds_start": 500,
"cds_end": null,
"cds_length": 3657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898591.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000898589.1",
"protein_id": "ENSP00000568648.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1207,
"cds_start": 500,
"cds_end": null,
"cds_length": 3624,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000898589.1"
},
{
"aa_ref": "A",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.500C>A",
"hgvs_p": "p.Ala167Asp",
"transcript": "ENST00000934094.1",
"protein_id": "ENSP00000604153.1",
"transcript_support_level": null,
"aa_start": 167,
"aa_end": null,
"aa_length": 1206,
"cds_start": 500,
"cds_end": null,
"cds_length": 3621,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934094.1"
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"hgvs_c": "c.134-28060C>A",
"hgvs_p": null,
"transcript": "ENST00000934096.1",
"protein_id": "ENSP00000604155.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 924,
"cds_start": null,
"cds_end": null,
"cds_length": 2775,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934096.1"
}
],
"gene_symbol": "SEC24B",
"gene_hgnc_id": 10704,
"dbsnp": "rs1391945564",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.09553307294845581,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.096,
"revel_prediction": "Benign",
"alphamissense_score": 0.1606,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.34,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.676,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001300813.3",
"gene_symbol": "SEC24B",
"hgnc_id": 10704,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.593C>A",
"hgvs_p": "p.Ala198Asp"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}