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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: X-72330071-GATTCCCTGC-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=X&pos=72330071&ref=GATTCCCTGC&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "X",
"pos": 72330071,
"ref": "GATTCCCTGC",
"alt": "G",
"effect": "frameshift_variant,splice_acceptor_variant,splice_region_variant,intron_variant",
"transcript": "NM_001410725.1",
"consequences": [
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1112-4_1116delGCAGGGAAT",
"hgvs_p": "p.Gly371fs",
"transcript": "NM_018486.3",
"protein_id": "NP_060956.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 377,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "ENST00000373573.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_018486.3"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1112-4_1116delGCAGGGAAT",
"hgvs_p": "p.Gly371fs",
"transcript": "ENST00000373573.9",
"protein_id": "ENSP00000362674.3",
"transcript_support_level": 1,
"aa_start": 371,
"aa_end": null,
"aa_length": 377,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1754,
"mane_select": "NM_018486.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373573.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 10,
"intron_rank_end": null,
"gene_symbol": "ENSG00000285547",
"gene_hgnc_id": null,
"hgvs_c": "c.1111+21653_1111+21661delGCAGGGAAT",
"hgvs_p": null,
"transcript": "ENST00000648922.1",
"protein_id": "ENSP00000497072.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 555,
"cds_start": null,
"cds_end": null,
"cds_length": 1670,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1752,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648922.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.*51-4_*55delGCAGGGAAT",
"hgvs_p": null,
"transcript": "ENST00000647594.1",
"protein_id": "ENSP00000496814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647594.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.*786_*794delGCAGGGAAT",
"hgvs_p": null,
"transcript": "ENST00000647859.1",
"protein_id": "ENSP00000497530.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2502,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647859.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1223-4_1227delGCAGGGAAT",
"hgvs_p": "p.Gly408fs",
"transcript": "ENST00000648452.1",
"protein_id": "ENSP00000497268.1",
"transcript_support_level": null,
"aa_start": 408,
"aa_end": null,
"aa_length": 414,
"cds_start": 1223,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 1331,
"cdna_end": null,
"cdna_length": 1865,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000648452.1"
},
{
"aa_ref": "RN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1190-4_1194delGCAGGGAAT",
"hgvs_p": "p.Arg397fs",
"transcript": "NM_001410725.1",
"protein_id": "NP_001397654.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 403,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1276,
"cdna_end": null,
"cdna_length": 1832,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410725.1"
},
{
"aa_ref": "RN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1190-4_1194delGCAGGGAAT",
"hgvs_p": "p.Arg397fs",
"transcript": "ENST00000647886.1",
"protein_id": "ENSP00000497188.1",
"transcript_support_level": null,
"aa_start": 397,
"aa_end": null,
"aa_length": 403,
"cds_start": 1190,
"cds_end": null,
"cds_length": 1212,
"cdna_start": 1292,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647886.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1157-4_1161delGCAGGGAAT",
"hgvs_p": "p.Gly386fs",
"transcript": "ENST00000881225.1",
"protein_id": "ENSP00000551284.1",
"transcript_support_level": null,
"aa_start": 386,
"aa_end": null,
"aa_length": 392,
"cds_start": 1157,
"cds_end": null,
"cds_length": 1179,
"cdna_start": 1243,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881225.1"
},
{
"aa_ref": "RN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1112-4_1116delGCAGGGAAT",
"hgvs_p": "p.Arg371fs",
"transcript": "ENST00000881229.1",
"protein_id": "ENSP00000551288.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 377,
"cds_start": 1112,
"cds_end": null,
"cds_length": 1134,
"cdna_start": 1171,
"cdna_end": null,
"cdna_length": 1727,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881229.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1109-4_1113delGCAGGGAAT",
"hgvs_p": "p.Gly370fs",
"transcript": "ENST00000925427.1",
"protein_id": "ENSP00000595486.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 376,
"cds_start": 1109,
"cds_end": null,
"cds_length": 1131,
"cdna_start": 1218,
"cdna_end": null,
"cdna_length": 1774,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000925427.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1106-4_1110delGCAGGGAAT",
"hgvs_p": "p.Gly369fs",
"transcript": "ENST00000647980.1",
"protein_id": "ENSP00000498002.1",
"transcript_support_level": null,
"aa_start": 369,
"aa_end": null,
"aa_length": 375,
"cds_start": 1106,
"cds_end": null,
"cds_length": 1128,
"cdna_start": 1196,
"cdna_end": null,
"cdna_length": 1700,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647980.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_acceptor_variant",
"splice_region_variant",
"3_prime_UTR_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.*51-4_*55delGCAGGGAAT",
"hgvs_p": null,
"transcript": "ENST00000647594.1",
"protein_id": "ENSP00000496814.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 373,
"cds_start": null,
"cds_end": null,
"cds_length": 1122,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1785,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647594.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1034-4_1038delGCAGGGAAT",
"hgvs_p": "p.Gly345fs",
"transcript": "NM_001410727.1",
"protein_id": "NP_001397656.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 351,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1120,
"cdna_end": null,
"cdna_length": 1676,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410727.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.1034-4_1038delGCAGGGAAT",
"hgvs_p": "p.Gly345fs",
"transcript": "ENST00000373583.6",
"protein_id": "ENSP00000362685.2",
"transcript_support_level": 5,
"aa_start": 345,
"aa_end": null,
"aa_length": 351,
"cds_start": 1034,
"cds_end": null,
"cds_length": 1056,
"cdna_start": 1154,
"cdna_end": null,
"cdna_length": 1710,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373583.6"
},
{
"aa_ref": "RN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.917-4_921delGCAGGGAAT",
"hgvs_p": "p.Arg306fs",
"transcript": "NM_001410728.1",
"protein_id": "NP_001397657.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 312,
"cds_start": 917,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1559,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410728.1"
},
{
"aa_ref": "RN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.917-4_921delGCAGGGAAT",
"hgvs_p": "p.Arg306fs",
"transcript": "ENST00000647654.1",
"protein_id": "ENSP00000497568.1",
"transcript_support_level": null,
"aa_start": 306,
"aa_end": null,
"aa_length": 312,
"cds_start": 917,
"cds_end": null,
"cds_length": 939,
"cdna_start": 1003,
"cdna_end": null,
"cdna_length": 1516,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647654.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.890-4_894delGCAGGGAAT",
"hgvs_p": "p.Gly297fs",
"transcript": "ENST00000881230.1",
"protein_id": "ENSP00000551289.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 303,
"cds_start": 890,
"cds_end": null,
"cds_length": 912,
"cdna_start": 949,
"cdna_end": null,
"cdna_length": 1505,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881230.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.857-4_861delGCAGGGAAT",
"hgvs_p": "p.Gly286fs",
"transcript": "ENST00000881227.1",
"protein_id": "ENSP00000551286.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 292,
"cds_start": 857,
"cds_end": null,
"cds_length": 879,
"cdna_start": 940,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881227.1"
},
{
"aa_ref": "GN",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_acceptor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "HDAC8",
"gene_hgnc_id": 13315,
"hgvs_c": "c.839-4_843delGCAGGGAAT",
"hgvs_p": "p.Gly280fs",
"transcript": "NM_001166418.2",
"protein_id": "NP_001159890.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 286,
"cds_start": 839,
"cds_end": null,
"cds_length": 861,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1481,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001166418.2"
},
{
"aa_ref": "GN",
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "P:1",
"phenotype_combined": "Cornelia de Lange syndrome 1",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}