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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: 11-83786686-TGACC-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=83786686&ref=TGACC&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 83786686,
"ref": "TGACC",
"alt": "T",
"effect": "frameshift_variant,splice_donor_variant,splice_region_variant,intron_variant",
"transcript": "NM_001142699.3",
"consequences": [
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1825_1825+3delGGTC",
"hgvs_p": "p.Asp609fs",
"transcript": "NM_001142699.3",
"protein_id": "NP_001136171.1",
"transcript_support_level": null,
"aa_start": 609,
"aa_end": null,
"aa_length": 975,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "ENST00000376104.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1825_1825+3delGGTC",
"hgvs_p": "p.Asp609fs",
"transcript": "ENST00000376104.7",
"protein_id": "ENSP00000365272.2",
"transcript_support_level": 1,
"aa_start": 609,
"aa_end": null,
"aa_length": 975,
"cds_start": 1825,
"cds_end": null,
"cds_length": 2928,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7959,
"mane_select": "NM_001142699.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1510_1510+3delGGTC",
"hgvs_p": "p.Asp504fs",
"transcript": "ENST00000398309.6",
"protein_id": "ENSP00000381355.2",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 870,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2613,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1510_1510+3delGGTC",
"hgvs_p": "p.Asp504fs",
"transcript": "ENST00000532653.5",
"protein_id": "ENSP00000435849.1",
"transcript_support_level": 1,
"aa_start": 504,
"aa_end": null,
"aa_length": 852,
"cds_start": 1510,
"cds_end": null,
"cds_length": 2559,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_donor_variant",
"splice_region_variant",
"intron_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "n.1788_1788+3delGGTC",
"hgvs_p": null,
"transcript": "ENST00000529111.5",
"protein_id": null,
"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": 3926,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "?",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_region_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1936_*3delGGTC",
"hgvs_p": "p.???646fs",
"transcript": "ENST00000706006.1",
"protein_id": "ENSP00000516200.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 644,
"cds_start": 1936,
"cds_end": null,
"cds_length": 1936,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2199,
"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": 12,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "n.1821_1824delGGTC",
"hgvs_p": null,
"transcript": "ENST00000398301.7",
"protein_id": null,
"transcript_support_level": 2,
"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": 2842,
"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": 13,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "n.1512_1515delGGTC",
"hgvs_p": null,
"transcript": "ENST00000706244.1",
"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": 1993,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1936_1936+3delGGTC",
"hgvs_p": "p.Asp646fs",
"transcript": "ENST00000650630.1",
"protein_id": "ENSP00000497771.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 1012,
"cds_start": 1936,
"cds_end": null,
"cds_length": 3039,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5127,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1861_1861+3delGGTC",
"hgvs_p": "p.Asp621fs",
"transcript": "NM_001351274.2",
"protein_id": "NP_001338203.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 969,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 8537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1861_1861+3delGGTC",
"hgvs_p": "p.Asp621fs",
"transcript": "ENST00000706226.1",
"protein_id": "ENSP00000516284.1",
"transcript_support_level": null,
"aa_start": 621,
"aa_end": null,
"aa_length": 969,
"cds_start": 1861,
"cds_end": null,
"cds_length": 2910,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3626,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1858_1858+3delGGTC",
"hgvs_p": "p.Asp620fs",
"transcript": "NM_001351275.2",
"protein_id": "NP_001338204.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 968,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9469,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1858_1858+3delGGTC",
"hgvs_p": "p.Asp620fs",
"transcript": "ENST00000706233.1",
"protein_id": "ENSP00000516288.1",
"transcript_support_level": null,
"aa_start": 620,
"aa_end": null,
"aa_length": 968,
"cds_start": 1858,
"cds_end": null,
"cds_length": 2907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 9410,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1627_1627+3delGGTC",
"hgvs_p": "p.Asp543fs",
"transcript": "NM_001206769.2",
"protein_id": "NP_001193698.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 909,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1627_1627+3delGGTC",
"hgvs_p": "p.Asp543fs",
"transcript": "ENST00000280241.12",
"protein_id": "ENSP00000280241.8",
"transcript_support_level": 5,
"aa_start": 543,
"aa_end": null,
"aa_length": 909,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2730,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7730,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1627_1627+3delGGTC",
"hgvs_p": "p.Asp543fs",
"transcript": "NM_001377966.1",
"protein_id": "NP_001364895.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 903,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2712,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1627_1627+3delGGTC",
"hgvs_p": "p.Asp543fs",
"transcript": "NM_001377967.1",
"protein_id": "NP_001364896.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 891,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 7674,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1627_1627+3delGGTC",
"hgvs_p": "p.Asp543fs",
"transcript": "ENST00000706243.1",
"protein_id": "ENSP00000516291.1",
"transcript_support_level": null,
"aa_start": 543,
"aa_end": null,
"aa_length": 891,
"cds_start": 1627,
"cds_end": null,
"cds_length": 2676,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3567,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1570_1570+3delGGTC",
"hgvs_p": "p.Asp524fs",
"transcript": "ENST00000648622.1",
"protein_id": "ENSP00000497475.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 890,
"cds_start": 1570,
"cds_end": null,
"cds_length": 2673,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5090,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1570_1570+3delGGTC",
"hgvs_p": "p.Asp524fs",
"transcript": "ENST00000706267.1",
"protein_id": "ENSP00000516313.1",
"transcript_support_level": null,
"aa_start": 524,
"aa_end": null,
"aa_length": 872,
"cds_start": 1570,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3246,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant",
"splice_donor_variant",
"splice_region_variant",
"intron_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DLG2",
"gene_hgnc_id": 2901,
"hgvs_c": "c.1567_1567+3delGGTC",
"hgvs_p": "p.Asp523fs",
"transcript": "NM_001351276.2",
"protein_id": "NP_001338205.1",
"transcript_support_level": null,
"aa_start": 523,
"aa_end": null,
"aa_length": 871,
"cds_start": 1567,
"cds_end": null,
"cds_length": 2616,
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{
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],
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}
],
"message": null
}