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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: 7-70790385-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=70790385&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 70790385,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000342771.10",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Gly1057Ser",
"transcript": "NM_015570.4",
"protein_id": "NP_056385.1",
"transcript_support_level": null,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4348,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "ENST00000342771.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3169G>A",
"hgvs_p": "p.Gly1057Ser",
"transcript": "ENST00000342771.10",
"protein_id": "ENSP00000344087.4",
"transcript_support_level": 1,
"aa_start": 1057,
"aa_end": null,
"aa_length": 1259,
"cds_start": 3169,
"cds_end": null,
"cds_length": 3780,
"cdna_start": 4348,
"cdna_end": null,
"cdna_length": 7469,
"mane_select": "NM_015570.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3097G>A",
"hgvs_p": "p.Gly1033Ser",
"transcript": "ENST00000406775.6",
"protein_id": "ENSP00000385263.2",
"transcript_support_level": 1,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3097,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 3832,
"cdna_end": null,
"cdna_length": 5950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3166G>A",
"hgvs_p": "p.Gly1056Ser",
"transcript": "ENST00000644939.1",
"protein_id": "ENSP00000496726.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3166,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4524,
"cdna_end": null,
"cdna_length": 7006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3097G>A",
"hgvs_p": "p.Gly1033Ser",
"transcript": "NM_001127231.3",
"protein_id": "NP_001120703.1",
"transcript_support_level": null,
"aa_start": 1033,
"aa_end": null,
"aa_length": 1235,
"cds_start": 3097,
"cds_end": null,
"cds_length": 3708,
"cdna_start": 4276,
"cdna_end": null,
"cdna_length": 7397,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2425G>A",
"hgvs_p": "p.Gly809Ser",
"transcript": "ENST00000611706.4",
"protein_id": "ENSP00000478134.1",
"transcript_support_level": 5,
"aa_start": 809,
"aa_end": null,
"aa_length": 1011,
"cds_start": 2425,
"cds_end": null,
"cds_length": 3036,
"cdna_start": 2481,
"cdna_end": null,
"cdna_length": 4583,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2353G>A",
"hgvs_p": "p.Gly785Ser",
"transcript": "ENST00000615871.4",
"protein_id": "ENSP00000479325.1",
"transcript_support_level": 5,
"aa_start": 785,
"aa_end": null,
"aa_length": 987,
"cds_start": 2353,
"cds_end": null,
"cds_length": 2964,
"cdna_start": 2409,
"cdna_end": null,
"cdna_length": 4511,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.2032G>A",
"hgvs_p": "p.Gly678Ser",
"transcript": "ENST00000647140.1",
"protein_id": "ENSP00000494226.1",
"transcript_support_level": null,
"aa_start": 678,
"aa_end": null,
"aa_length": 880,
"cds_start": 2032,
"cds_end": null,
"cds_length": 2643,
"cdna_start": 2034,
"cdna_end": null,
"cdna_length": 3006,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1795G>A",
"hgvs_p": "p.Gly599Ser",
"transcript": "ENST00000644506.1",
"protein_id": "ENSP00000496672.1",
"transcript_support_level": null,
"aa_start": 599,
"aa_end": null,
"aa_length": 801,
"cds_start": 1795,
"cds_end": null,
"cds_length": 2406,
"cdna_start": 3191,
"cdna_end": null,
"cdna_length": 5291,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.1750G>A",
"hgvs_p": "p.Gly584Ser",
"transcript": "ENST00000644359.1",
"protein_id": "ENSP00000494561.1",
"transcript_support_level": null,
"aa_start": 584,
"aa_end": null,
"aa_length": 786,
"cds_start": 1750,
"cds_end": null,
"cds_length": 2361,
"cdna_start": 3419,
"cdna_end": null,
"cdna_length": 4160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3190G>A",
"hgvs_p": "p.Gly1064Ser",
"transcript": "XM_011516010.3",
"protein_id": "XP_011514312.1",
"transcript_support_level": null,
"aa_start": 1064,
"aa_end": null,
"aa_length": 1266,
"cds_start": 3190,
"cds_end": null,
"cds_length": 3801,
"cdna_start": 4369,
"cdna_end": null,
"cdna_length": 7490,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3187G>A",
"hgvs_p": "p.Gly1063Ser",
"transcript": "XM_011516011.3",
"protein_id": "XP_011514313.1",
"transcript_support_level": null,
"aa_start": 1063,
"aa_end": null,
"aa_length": 1265,
"cds_start": 3187,
"cds_end": null,
"cds_length": 3798,
"cdna_start": 4366,
"cdna_end": null,
"cdna_length": 7487,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3166G>A",
"hgvs_p": "p.Gly1056Ser",
"transcript": "XM_047420154.1",
"protein_id": "XP_047276110.1",
"transcript_support_level": null,
"aa_start": 1056,
"aa_end": null,
"aa_length": 1258,
"cds_start": 3166,
"cds_end": null,
"cds_length": 3777,
"cdna_start": 4345,
"cdna_end": null,
"cdna_length": 7466,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3124G>A",
"hgvs_p": "p.Gly1042Ser",
"transcript": "XM_011516012.3",
"protein_id": "XP_011514314.1",
"transcript_support_level": null,
"aa_start": 1042,
"aa_end": null,
"aa_length": 1244,
"cds_start": 3124,
"cds_end": null,
"cds_length": 3735,
"cdna_start": 4303,
"cdna_end": null,
"cdna_length": 7424,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3121G>A",
"hgvs_p": "p.Gly1041Ser",
"transcript": "XM_047420155.1",
"protein_id": "XP_047276111.1",
"transcript_support_level": null,
"aa_start": 1041,
"aa_end": null,
"aa_length": 1243,
"cds_start": 3121,
"cds_end": null,
"cds_length": 3732,
"cdna_start": 4300,
"cdna_end": null,
"cdna_length": 7421,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3118G>A",
"hgvs_p": "p.Gly1040Ser",
"transcript": "XM_011516013.3",
"protein_id": "XP_011514315.1",
"transcript_support_level": null,
"aa_start": 1040,
"aa_end": null,
"aa_length": 1242,
"cds_start": 3118,
"cds_end": null,
"cds_length": 3729,
"cdna_start": 4297,
"cdna_end": null,
"cdna_length": 7418,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3094G>A",
"hgvs_p": "p.Gly1032Ser",
"transcript": "XM_047420156.1",
"protein_id": "XP_047276112.1",
"transcript_support_level": null,
"aa_start": 1032,
"aa_end": null,
"aa_length": 1234,
"cds_start": 3094,
"cds_end": null,
"cds_length": 3705,
"cdna_start": 4273,
"cdna_end": null,
"cdna_length": 7394,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3088G>A",
"hgvs_p": "p.Gly1030Ser",
"transcript": "XM_011516014.3",
"protein_id": "XP_011514316.1",
"transcript_support_level": null,
"aa_start": 1030,
"aa_end": null,
"aa_length": 1232,
"cds_start": 3088,
"cds_end": null,
"cds_length": 3699,
"cdna_start": 4267,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3067G>A",
"hgvs_p": "p.Gly1023Ser",
"transcript": "XM_047420157.1",
"protein_id": "XP_047276113.1",
"transcript_support_level": null,
"aa_start": 1023,
"aa_end": null,
"aa_length": 1225,
"cds_start": 3067,
"cds_end": null,
"cds_length": 3678,
"cdna_start": 4246,
"cdna_end": null,
"cdna_length": 7367,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3064G>A",
"hgvs_p": "p.Gly1022Ser",
"transcript": "XM_047420158.1",
"protein_id": "XP_047276114.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1224,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3675,
"cdna_start": 4243,
"cdna_end": null,
"cdna_length": 7364,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3052G>A",
"hgvs_p": "p.Gly1018Ser",
"transcript": "XM_047420159.1",
"protein_id": "XP_047276115.1",
"transcript_support_level": null,
"aa_start": 1018,
"aa_end": null,
"aa_length": 1220,
"cds_start": 3052,
"cds_end": null,
"cds_length": 3663,
"cdna_start": 4231,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "AUTS2",
"gene_hgnc_id": 14262,
"hgvs_c": "c.3049G>A",
"hgvs_p": "p.Gly1017Ser",
"transcript": "XM_047420160.1",
"protein_id": "XP_047276116.1",
"transcript_support_level": null,
"aa_start": 1017,
"aa_end": null,
"aa_length": 1219,
"cds_start": 3049,
"cds_end": null,
"cds_length": 3660,
"cdna_start": 4228,
"cdna_end": null,
"cdna_length": 7349,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
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{
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided|15q11q13 microduplication syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}