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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: 1-44000805-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=44000805&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 44000805,
"ref": "G",
"alt": "A",
"effect": "stop_gained",
"transcript": "ENST00000372310.8",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*",
"transcript": "NM_001024845.3",
"protein_id": "NP_001020016.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 633,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "ENST00000372310.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*",
"transcript": "ENST00000372310.8",
"protein_id": "ENSP00000361384.4",
"transcript_support_level": 5,
"aa_start": 500,
"aa_end": null,
"aa_length": 633,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 3206,
"mane_select": "NM_001024845.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Gln573*",
"transcript": "ENST00000360584.6",
"protein_id": "ENSP00000353791.2",
"transcript_support_level": 1,
"aa_start": 573,
"aa_end": null,
"aa_length": 706,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1909,
"cdna_end": null,
"cdna_length": 2330,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Gln519*",
"transcript": "ENST00000357730.6",
"protein_id": "ENSP00000350362.2",
"transcript_support_level": 1,
"aa_start": 519,
"aa_end": null,
"aa_length": 652,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 2168,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Gln573*",
"transcript": "NM_201649.4",
"protein_id": "NP_964012.2",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 706,
"cds_start": 1717,
"cds_end": null,
"cds_length": 2121,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 3213,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1555C>T",
"hgvs_p": "p.Gln519*",
"transcript": "NM_006934.4",
"protein_id": "NP_008865.2",
"transcript_support_level": null,
"aa_start": 519,
"aa_end": null,
"aa_length": 652,
"cds_start": 1555,
"cds_end": null,
"cds_length": 1959,
"cdna_start": 1585,
"cdna_end": null,
"cdna_length": 3051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1510C>T",
"hgvs_p": "p.Gln504*",
"transcript": "NM_001261380.2",
"protein_id": "NP_001248309.1",
"transcript_support_level": null,
"aa_start": 504,
"aa_end": null,
"aa_length": 637,
"cds_start": 1510,
"cds_end": null,
"cds_length": 1914,
"cdna_start": 1540,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*",
"transcript": "NM_001328629.1",
"protein_id": "NP_001315558.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 633,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1619,
"cdna_end": null,
"cdna_length": 3085,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*",
"transcript": "ENST00000673836.1",
"protein_id": "ENSP00000501314.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 633,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 1673,
"cdna_end": null,
"cdna_length": 3119,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1435C>T",
"hgvs_p": "p.Gln479*",
"transcript": "NM_001328627.1",
"protein_id": "NP_001315556.1",
"transcript_support_level": null,
"aa_start": 479,
"aa_end": null,
"aa_length": 612,
"cds_start": 1435,
"cds_end": null,
"cds_length": 1839,
"cdna_start": 1605,
"cdna_end": null,
"cdna_length": 3071,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "ENST00000372307.7",
"protein_id": "ENSP00000361381.3",
"transcript_support_level": 2,
"aa_start": 435,
"aa_end": null,
"aa_length": 574,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1725,
"cdna_start": 1631,
"cdna_end": null,
"cdna_length": 2162,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1303C>T",
"hgvs_p": "p.Gln435*",
"transcript": "NM_001328628.1",
"protein_id": "NP_001315557.1",
"transcript_support_level": null,
"aa_start": 435,
"aa_end": null,
"aa_length": 568,
"cds_start": 1303,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 1473,
"cdna_end": null,
"cdna_length": 2939,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Gln389*",
"transcript": "NM_001328626.2",
"protein_id": "NP_001315555.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 522,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2917,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Gln389*",
"transcript": "ENST00000475075.6",
"protein_id": "ENSP00000434460.1",
"transcript_support_level": 2,
"aa_start": 389,
"aa_end": null,
"aa_length": 522,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1569,
"cdna_start": 1375,
"cdna_end": null,
"cdna_length": 1881,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1165C>T",
"hgvs_p": "p.Gln389*",
"transcript": "NM_001328630.2",
"protein_id": "NP_001315559.1",
"transcript_support_level": null,
"aa_start": 389,
"aa_end": null,
"aa_length": 465,
"cds_start": 1165,
"cds_end": null,
"cds_length": 1398,
"cdna_start": 1451,
"cdna_end": null,
"cdna_length": 2746,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Gln554*",
"transcript": "XM_047428739.1",
"protein_id": "XP_047284695.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 687,
"cds_start": 1660,
"cds_end": null,
"cds_length": 2064,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 3368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*",
"transcript": "XM_047428740.1",
"protein_id": "XP_047284696.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 633,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1902,
"cdna_start": 5638,
"cdna_end": null,
"cdna_length": 7104,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1717C>T",
"hgvs_p": "p.Gln573*",
"transcript": "XM_011542017.3",
"protein_id": "XP_011540319.1",
"transcript_support_level": null,
"aa_start": 573,
"aa_end": null,
"aa_length": 618,
"cds_start": 1717,
"cds_end": null,
"cds_length": 1857,
"cdna_start": 1747,
"cdna_end": null,
"cdna_length": 1979,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1417C>T",
"hgvs_p": "p.Gln473*",
"transcript": "XM_017002152.3",
"protein_id": "XP_016857641.1",
"transcript_support_level": null,
"aa_start": 473,
"aa_end": null,
"aa_length": 606,
"cds_start": 1417,
"cds_end": null,
"cds_length": 1821,
"cdna_start": 1502,
"cdna_end": null,
"cdna_length": 2968,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1660C>T",
"hgvs_p": "p.Gln554*",
"transcript": "XM_047428743.1",
"protein_id": "XP_047284699.1",
"transcript_support_level": null,
"aa_start": 554,
"aa_end": null,
"aa_length": 599,
"cds_start": 1660,
"cds_end": null,
"cds_length": 1800,
"cdna_start": 1902,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*",
"transcript": "XM_047428744.1",
"protein_id": "XP_047284700.1",
"transcript_support_level": null,
"aa_start": 500,
"aa_end": null,
"aa_length": 545,
"cds_start": 1498,
"cds_end": null,
"cds_length": 1638,
"cdna_start": 1740,
"cdna_end": null,
"cdna_length": 2149,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "S",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "c.1586C>T",
"hgvs_p": "p.Ser529Leu",
"transcript": "ENST00000372306.7",
"protein_id": "ENSP00000361380.3",
"transcript_support_level": 2,
"aa_start": 529,
"aa_end": null,
"aa_length": 579,
"cds_start": 1586,
"cds_end": null,
"cds_length": 1740,
"cdna_start": 1726,
"cdna_end": null,
"cdna_length": 1926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"hgvs_c": "n.1581C>T",
"hgvs_p": null,
"transcript": "NR_048548.2",
"protein_id": null,
"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": 3047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC6A9",
"gene_hgnc_id": 11056,
"dbsnp": "rs1057519314",
"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": 0.35600000619888306,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.356,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.1676,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": 4.549,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.02,
"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": 11,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5",
"acmg_by_gene": [
{
"score": 11,
"benign_score": 0,
"pathogenic_score": 11,
"criteria": [
"PVS1",
"PM2",
"PP5"
],
"verdict": "Pathogenic",
"transcript": "ENST00000372310.8",
"gene_symbol": "SLC6A9",
"hgnc_id": 11056,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR,Unknown",
"hgvs_c": "c.1498C>T",
"hgvs_p": "p.Gln500*"
}
],
"clinvar_disease": "Atypical glycine encephalopathy",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "O:1",
"phenotype_combined": "Atypical glycine encephalopathy",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}