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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: 3-66262051-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=66262051&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 66262051,
"ref": "G",
"alt": "C",
"effect": "missense_variant,splice_region_variant",
"transcript": "ENST00000354883.11",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "NM_001379210.1",
"protein_id": "NP_001366139.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 274,
"cds_start": 301,
"cds_end": null,
"cds_length": 825,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": "ENST00000354883.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "ENST00000354883.11",
"protein_id": "ENSP00000346955.6",
"transcript_support_level": 2,
"aa_start": 101,
"aa_end": null,
"aa_length": 274,
"cds_start": 301,
"cds_end": null,
"cds_length": 825,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2035,
"mane_select": "NM_001379210.1",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000336733.10",
"protein_id": "ENSP00000336801.5",
"transcript_support_level": 1,
"aa_start": 13,
"aa_end": null,
"aa_length": 186,
"cds_start": 37,
"cds_end": null,
"cds_length": 561,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 1023,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.37G>C",
"hgvs_p": null,
"transcript": "ENST00000464350.6",
"protein_id": "ENSP00000432574.2",
"transcript_support_level": 1,
"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": 3879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "NM_001400705.1",
"protein_id": "NP_001387634.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 298,
"cds_start": 301,
"cds_end": null,
"cds_length": 897,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 2247,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "NM_173471.4",
"protein_id": "NP_775742.4",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 274,
"cds_start": 301,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 2669,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "ENST00000676754.1",
"protein_id": "ENSP00000504323.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 274,
"cds_start": 301,
"cds_end": null,
"cds_length": 825,
"cdna_start": 1029,
"cdna_end": null,
"cdna_length": 1828,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "NM_001400707.1",
"protein_id": "NP_001387636.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 259,
"cds_start": 301,
"cds_end": null,
"cds_length": 780,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 1990,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001400709.1",
"protein_id": "NP_001387638.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 210,
"cds_start": 37,
"cds_end": null,
"cds_length": 633,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 2090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000413054.5",
"protein_id": "ENSP00000415304.2",
"transcript_support_level": 5,
"aa_start": 13,
"aa_end": null,
"aa_length": 210,
"cds_start": 37,
"cds_end": null,
"cds_length": 633,
"cdna_start": 111,
"cdna_end": null,
"cdna_length": 1096,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001164796.1",
"protein_id": "NP_001158268.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 186,
"cds_start": 37,
"cds_end": null,
"cds_length": 561,
"cdna_start": 497,
"cdna_end": null,
"cdna_length": 2141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001350993.1",
"protein_id": "NP_001337922.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 186,
"cds_start": 37,
"cds_end": null,
"cds_length": 561,
"cdna_start": 741,
"cdna_end": null,
"cdna_length": 2385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001400711.1",
"protein_id": "NP_001387640.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 186,
"cds_start": 37,
"cds_end": null,
"cds_length": 561,
"cdna_start": 365,
"cdna_end": null,
"cdna_length": 2005,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "ENST00000686511.1",
"protein_id": "ENSP00000509933.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 186,
"cds_start": 37,
"cds_end": null,
"cds_length": 561,
"cdna_start": 395,
"cdna_end": null,
"cdna_length": 3011,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.34G>C",
"hgvs_p": "p.Val12Leu",
"transcript": "ENST00000688696.1",
"protein_id": "ENSP00000509851.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 185,
"cds_start": 34,
"cds_end": null,
"cds_length": 558,
"cdna_start": 122,
"cdna_end": null,
"cdna_length": 2738,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.37G>C",
"hgvs_p": "p.Val13Leu",
"transcript": "NM_001400714.1",
"protein_id": "NP_001387643.1",
"transcript_support_level": null,
"aa_start": 13,
"aa_end": null,
"aa_length": 171,
"cds_start": 37,
"cds_end": null,
"cds_length": 516,
"cdna_start": 238,
"cdna_end": null,
"cdna_length": 1833,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu",
"transcript": "XM_011533328.3",
"protein_id": "XP_011531630.1",
"transcript_support_level": null,
"aa_start": 101,
"aa_end": null,
"aa_length": 162,
"cds_start": 301,
"cds_end": null,
"cds_length": 489,
"cdna_start": 654,
"cdna_end": null,
"cdna_length": 4054,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.109G>C",
"hgvs_p": null,
"transcript": "ENST00000483224.5",
"protein_id": "ENSP00000437217.1",
"transcript_support_level": 5,
"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": 1840,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.57G>C",
"hgvs_p": null,
"transcript": "ENST00000484768.1",
"protein_id": null,
"transcript_support_level": 3,
"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": 375,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.37G>C",
"hgvs_p": null,
"transcript": "ENST00000686445.1",
"protein_id": "ENSP00000509085.1",
"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": 1751,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.407G>C",
"hgvs_p": null,
"transcript": "ENST00000687663.1",
"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": 2597,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"hgvs_c": "n.37G>C",
"hgvs_p": null,
"transcript": "ENST00000689520.1",
"protein_id": "ENSP00000509413.1",
"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": 1928,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"protein_id": "ENSP00000509739.1",
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"aa_start": null,
"aa_end": null,
"aa_length": 135,
"cds_start": -4,
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"cds_length": 408,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1704,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A26",
"gene_hgnc_id": 20661,
"dbsnp": "rs774532404",
"frequency_reference_population": 7.113347e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 7.11335e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.48070722818374634,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.6380000114440918,
"splice_prediction_selected": "Benign",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.287,
"revel_prediction": "Benign",
"alphamissense_score": 0.2504,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.17,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.598,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": 0.267961639889414,
"dbscsnv_ada_prediction": "Benign",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000354883.11",
"gene_symbol": "SLC25A26",
"hgnc_id": 20661,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.301G>C",
"hgvs_p": "p.Val101Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}