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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: 9-137349428-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=137349428&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "EXD3",
"hgnc_id": 26023,
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"inheritance_mode": "AR",
"pathogenic_score": 0,
"score": -20,
"transcript": "NM_017820.5",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -20,
"allele_count_reference_population": 76375,
"alphamissense_prediction": "Benign",
"alphamissense_score": 0.1056,
"alt": "A",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Benign",
"bayesdelnoaf_score": -0.52,
"chr": "9",
"clinvar_classification": "Benign",
"clinvar_disease": "not provided,not specified",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.00208321213722229,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 876,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "NM_017820.5",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340951.9",
"protein_coding": true,
"protein_id": "NP_060290.3",
"strand": false,
"transcript": "NM_017820.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 876,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 2781,
"cdna_start": 1694,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000340951.9",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_017820.5",
"protein_coding": true,
"protein_id": "ENSP00000340474.4",
"strand": false,
"transcript": "ENST00000340951.9",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000491734.6",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "n.*792C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435830.1",
"strand": false,
"transcript": "ENST00000491734.6",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 2176,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 15,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000491734.6",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "n.*792C>T",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000435830.1",
"strand": false,
"transcript": "ENST00000491734.6",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 986,
"aa_ref": "T",
"aa_start": 643,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3328,
"cdna_start": 2245,
"cds_end": null,
"cds_length": 2961,
"cds_start": 1928,
"consequences": [
"missense_variant"
],
"exon_count": 25,
"exon_rank": 18,
"exon_rank_end": null,
"feature": "ENST00000961732.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1928C>T",
"hgvs_p": "p.Thr643Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631791.1",
"strand": false,
"transcript": "ENST00000961732.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 964,
"aa_ref": "T",
"aa_start": 634,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2988,
"cdna_start": 1948,
"cds_end": null,
"cds_length": 2895,
"cds_start": 1901,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000961738.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1901C>T",
"hgvs_p": "p.Thr634Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631797.1",
"strand": false,
"transcript": "ENST00000961738.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 934,
"aa_ref": "T",
"aa_start": 591,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2975,
"cdna_start": 1886,
"cds_end": null,
"cds_length": 2805,
"cds_start": 1772,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879818.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1772C>T",
"hgvs_p": "p.Thr591Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549877.1",
"strand": false,
"transcript": "ENST00000879818.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 925,
"aa_ref": "T",
"aa_start": 582,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 3024,
"cdna_start": 1939,
"cds_end": null,
"cds_length": 2778,
"cds_start": 1745,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879813.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1745C>T",
"hgvs_p": "p.Thr582Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549872.1",
"strand": false,
"transcript": "ENST00000879813.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 923,
"aa_ref": "T",
"aa_start": 580,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2899,
"cdna_start": 1812,
"cds_end": null,
"cds_length": 2772,
"cds_start": 1739,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000879821.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1739C>T",
"hgvs_p": "p.Thr580Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549880.1",
"strand": false,
"transcript": "ENST00000879821.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 908,
"aa_ref": "T",
"aa_start": 565,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2882,
"cdna_start": 1796,
"cds_end": null,
"cds_length": 2727,
"cds_start": 1694,
"consequences": [
"missense_variant"
],
"exon_count": 23,
"exon_rank": 16,
"exon_rank_end": null,
"feature": "ENST00000961736.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1694C>T",
"hgvs_p": "p.Thr565Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631795.1",
"strand": false,
"transcript": "ENST00000961736.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 906,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2908,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 2721,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879816.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549875.1",
"strand": false,
"transcript": "ENST00000879816.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 893,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2833,
"cdna_start": 1703,
"cds_end": null,
"cds_length": 2682,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000913121.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000583180.1",
"strand": false,
"transcript": "ENST00000913121.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 890,
"aa_ref": "T",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2871,
"cdna_start": 1784,
"cds_end": null,
"cds_length": 2673,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000961731.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1640C>T",
"hgvs_p": "p.Thr547Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631790.1",
"strand": false,
"transcript": "ENST00000961731.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 888,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2753,
"cdna_start": 1634,
"cds_end": null,
"cds_length": 2667,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 14,
"exon_rank_end": null,
"feature": "ENST00000879822.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549881.1",
"strand": false,
"transcript": "ENST00000879822.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 877,
"aa_ref": "T",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2840,
"cdna_start": 1753,
"cds_end": null,
"cds_length": 2634,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879814.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549873.1",
"strand": false,
"transcript": "ENST00000879814.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 876,
"aa_ref": "T",
"aa_start": 547,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2782,
"cdna_start": 1745,
"cds_end": null,
"cds_length": 2631,
"cds_start": 1640,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879819.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1640C>T",
"hgvs_p": "p.Thr547Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549878.1",
"strand": false,
"transcript": "ENST00000879819.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 863,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2786,
"cdna_start": 1739,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879815.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549874.1",
"strand": false,
"transcript": "ENST00000879815.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 863,
"aa_ref": "T",
"aa_start": 534,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2775,
"cdna_start": 1734,
"cds_end": null,
"cds_length": 2592,
"cds_start": 1601,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000961733.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1601C>T",
"hgvs_p": "p.Thr534Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631792.1",
"strand": false,
"transcript": "ENST00000961733.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 862,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2772,
"cdna_start": 1731,
"cds_end": null,
"cds_length": 2589,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000879817.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000549876.1",
"strand": false,
"transcript": "ENST00000879817.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 849,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2704,
"cdna_start": 1700,
"cds_end": null,
"cds_length": 2550,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 21,
"exon_rank": 15,
"exon_rank_end": null,
"feature": "ENST00000961737.1",
"gene_hgnc_id": 26023,
"gene_symbol": "EXD3",
"hgvs_c": "c.1598C>T",
"hgvs_p": "p.Thr533Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000631796.1",
"strand": false,
"transcript": "ENST00000961737.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 847,
"aa_ref": "T",
"aa_start": 533,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2683,
"cdna_start": 1684,
"cds_end": null,
"cds_length": 2544,
"cds_start": 1598,
"consequences": [
"missense_variant"
],
"exon_count": 22,
"exon_rank": 15,
"exon_rank_end": null,
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