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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: 10-74670258-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=10&pos=74670258&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "10",
"pos": 74670258,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000539909.6",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.953C>A",
"hgvs_p": "p.Ala318Glu",
"transcript": "NM_006721.4",
"protein_id": "NP_006712.2",
"transcript_support_level": null,
"aa_start": 318,
"aa_end": null,
"aa_length": 362,
"cds_start": 953,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": "ENST00000539909.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.953C>A",
"hgvs_p": "p.Ala318Glu",
"transcript": "ENST00000539909.6",
"protein_id": "ENSP00000443965.2",
"transcript_support_level": 2,
"aa_start": 318,
"aa_end": null,
"aa_length": 362,
"cds_start": 953,
"cds_end": null,
"cds_length": 1089,
"cdna_start": 1011,
"cdna_end": null,
"cdna_length": 1992,
"mane_select": "NM_006721.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.953C>A",
"hgvs_p": "p.Ala318Glu",
"transcript": "ENST00000286621.7",
"protein_id": "ENSP00000286621.3",
"transcript_support_level": 1,
"aa_start": 318,
"aa_end": null,
"aa_length": 347,
"cds_start": 953,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1008,
"cdna_end": null,
"cdna_length": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.902C>A",
"hgvs_p": "p.Ala301Glu",
"transcript": "ENST00000372734.5",
"protein_id": "ENSP00000361819.3",
"transcript_support_level": 1,
"aa_start": 301,
"aa_end": null,
"aa_length": 345,
"cds_start": 902,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.902C>A",
"hgvs_p": "p.Ala301Glu",
"transcript": "ENST00000541550.6",
"protein_id": "ENSP00000438321.2",
"transcript_support_level": 2,
"aa_start": 301,
"aa_end": null,
"aa_length": 356,
"cds_start": 902,
"cds_end": null,
"cds_length": 1071,
"cdna_start": 1005,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.902C>A",
"hgvs_p": "p.Ala301Glu",
"transcript": "NM_001123.4",
"protein_id": "NP_001114.2",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 345,
"cds_start": 902,
"cds_end": null,
"cds_length": 1038,
"cdna_start": 1012,
"cdna_end": null,
"cdna_length": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.848C>A",
"hgvs_p": "p.Ala283Glu",
"transcript": "NM_001202449.2",
"protein_id": "NP_001189378.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 327,
"cds_start": 848,
"cds_end": null,
"cds_length": 984,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.848C>A",
"hgvs_p": "p.Ala283Glu",
"transcript": "ENST00000673027.1",
"protein_id": "ENSP00000500201.1",
"transcript_support_level": null,
"aa_start": 283,
"aa_end": null,
"aa_length": 327,
"cds_start": 848,
"cds_end": null,
"cds_length": 984,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1188,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Ala261Glu",
"transcript": "NM_001202450.2",
"protein_id": "NP_001189379.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 305,
"cds_start": 782,
"cds_end": null,
"cds_length": 918,
"cdna_start": 840,
"cdna_end": null,
"cdna_length": 1821,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.782C>A",
"hgvs_p": "p.Ala261Glu",
"transcript": "ENST00000672429.1",
"protein_id": "ENSP00000500292.1",
"transcript_support_level": null,
"aa_start": 261,
"aa_end": null,
"aa_length": 305,
"cds_start": 782,
"cds_end": null,
"cds_length": 918,
"cdna_start": 859,
"cdna_end": null,
"cdna_length": 1249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "NM_001369123.1",
"protein_id": "NP_001356052.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 294,
"cds_start": 838,
"cds_end": null,
"cds_length": 885,
"cdna_start": 896,
"cdna_end": null,
"cdna_length": 1877,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.838C>A",
"hgvs_p": "p.His280Asn",
"transcript": "ENST00000673352.1",
"protein_id": "ENSP00000500056.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 294,
"cds_start": 838,
"cds_end": null,
"cds_length": 885,
"cdna_start": 877,
"cdna_end": null,
"cdna_length": 2494,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.731C>A",
"hgvs_p": "p.Ala244Glu",
"transcript": "NM_001369124.1",
"protein_id": "NP_001356053.1",
"transcript_support_level": null,
"aa_start": 244,
"aa_end": null,
"aa_length": 288,
"cds_start": 731,
"cds_end": null,
"cds_length": 867,
"cdna_start": 841,
"cdna_end": null,
"cdna_length": 1822,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.677C>A",
"hgvs_p": "p.Ala226Glu",
"transcript": "ENST00000672394.1",
"protein_id": "ENSP00000500390.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 270,
"cds_start": 677,
"cds_end": null,
"cds_length": 813,
"cdna_start": 1419,
"cdna_end": null,
"cdna_length": 1791,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.758C>A",
"hgvs_p": "p.Ala253Glu",
"transcript": "XM_017015699.2",
"protein_id": "XP_016871188.1",
"transcript_support_level": null,
"aa_start": 253,
"aa_end": null,
"aa_length": 297,
"cds_start": 758,
"cds_end": null,
"cds_length": 894,
"cdna_start": 3022,
"cdna_end": null,
"cdna_length": 4003,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.787C>A",
"hgvs_p": "p.His263Asn",
"transcript": "XM_017015702.2",
"protein_id": "XP_016871191.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 277,
"cds_start": 787,
"cds_end": null,
"cds_length": 834,
"cdna_start": 897,
"cdna_end": null,
"cdna_length": 1878,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "A",
"aa_alt": "E",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.677C>A",
"hgvs_p": "p.Ala226Glu",
"transcript": "XM_017015703.3",
"protein_id": "XP_016871192.1",
"transcript_support_level": null,
"aa_start": 226,
"aa_end": null,
"aa_length": 270,
"cds_start": 677,
"cds_end": null,
"cds_length": 813,
"cdna_start": 720,
"cdna_end": null,
"cdna_length": 1701,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.667C>A",
"hgvs_p": "p.His223Asn",
"transcript": "XM_017015705.2",
"protein_id": "XP_016871194.1",
"transcript_support_level": null,
"aa_start": 223,
"aa_end": null,
"aa_length": 237,
"cds_start": 667,
"cds_end": null,
"cds_length": 714,
"cdna_start": 725,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.616C>A",
"hgvs_p": "p.His206Asn",
"transcript": "XM_047424621.1",
"protein_id": "XP_047280577.1",
"transcript_support_level": null,
"aa_start": 206,
"aa_end": null,
"aa_length": 220,
"cds_start": 616,
"cds_end": null,
"cds_length": 663,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 1707,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.*698C>A",
"hgvs_p": null,
"transcript": "ENST00000672920.1",
"protein_id": "ENSP00000500141.1",
"transcript_support_level": null,
"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": 1622,
"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": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.*546C>A",
"hgvs_p": null,
"transcript": "ENST00000673310.1",
"protein_id": "ENSP00000500097.1",
"transcript_support_level": null,
"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": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.*698C>A",
"hgvs_p": null,
"transcript": "ENST00000672920.1",
"protein_id": "ENSP00000500141.1",
"transcript_support_level": null,
"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": 1622,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "n.*546C>A",
"hgvs_p": null,
"transcript": "ENST00000673310.1",
"protein_id": "ENSP00000500097.1",
"transcript_support_level": null,
"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": 3212,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"hgvs_c": "c.502-38063C>A",
"hgvs_p": null,
"transcript": "ENST00000672604.1",
"protein_id": "ENSP00000499911.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 178,
"cds_start": -4,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ADK",
"gene_hgnc_id": 257,
"dbsnp": "rs397514452",
"frequency_reference_population": 0.0000034229179,
"hom_count_reference_population": 0,
"allele_count_reference_population": 5,
"gnomad_exomes_af": 0.00000342292,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 5,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9495036602020264,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.882,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9945,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.45,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 5.741,
"phylop100way_prediction": "Uncertain_significance",
"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": 8,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PP3_Strong,PP5_Moderate",
"acmg_by_gene": [
{
"score": 8,
"benign_score": 0,
"pathogenic_score": 8,
"criteria": [
"PM2",
"PP3_Strong",
"PP5_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000539909.6",
"gene_symbol": "ADK",
"hgnc_id": 257,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.953C>A",
"hgvs_p": "p.Ala318Glu"
}
],
"clinvar_disease": "Adenosine kinase deficiency",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Adenosine kinase deficiency",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}