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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: 11-68185833-TG-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=68185833&ref=TG&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 68185833,
"ref": "TG",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "ENST00000304363.9",
"consequences": [
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_017635.5",
"protein_id": "NP_060105.3",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 885,
"cds_start": 255,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": "ENST00000304363.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000304363.9",
"protein_id": "ENSP00000305899.4",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 885,
"cds_start": 255,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 5718,
"mane_select": "NM_017635.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000615954.4",
"protein_id": "ENSP00000484858.1",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 885,
"cds_start": 255,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 255,
"cdna_end": null,
"cdna_length": 4306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000401547.6",
"protein_id": "ENSP00000385965.2",
"transcript_support_level": 1,
"aa_start": 85,
"aa_end": null,
"aa_length": 393,
"cds_start": 255,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 480,
"cdna_end": null,
"cdna_length": 2666,
"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": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "n.255delC",
"hgvs_p": null,
"transcript": "ENST00000441488.6",
"protein_id": "ENSP00000411146.2",
"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": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_001369426.1",
"protein_id": "NP_001356355.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 885,
"cds_start": 255,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 491,
"cdna_end": null,
"cdna_length": 5719,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.42delC",
"hgvs_p": "p.Ser15fs",
"transcript": "ENST00000453170.6",
"protein_id": "ENSP00000406377.2",
"transcript_support_level": 5,
"aa_start": 14,
"aa_end": null,
"aa_length": 814,
"cds_start": 42,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 275,
"cdna_end": null,
"cdna_length": 3695,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_001363566.2",
"protein_id": "NP_001350495.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 402,
"cds_start": 255,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 1654,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000402789.5",
"protein_id": "ENSP00000385005.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 402,
"cds_start": 255,
"cds_end": null,
"cds_length": 1209,
"cdna_start": 450,
"cdna_end": null,
"cdna_length": 1599,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_001369427.1",
"protein_id": "NP_001356356.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 393,
"cds_start": 255,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2687,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_016028.4",
"protein_id": "NP_057112.3",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 393,
"cds_start": 255,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 511,
"cdna_end": null,
"cdna_length": 2693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000405515.5",
"protein_id": "ENSP00000385640.1",
"transcript_support_level": 5,
"aa_start": 85,
"aa_end": null,
"aa_length": 393,
"cds_start": 255,
"cds_end": null,
"cds_length": 1182,
"cdna_start": 683,
"cdna_end": null,
"cdna_length": 2869,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "NM_001300909.2",
"protein_id": "NP_001287838.1",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 370,
"cds_start": 255,
"cds_end": null,
"cds_length": 1113,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 2618,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000402185.6",
"protein_id": "ENSP00000384724.2",
"transcript_support_level": 2,
"aa_start": 85,
"aa_end": null,
"aa_length": 370,
"cds_start": 255,
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"cdna_start": 456,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.42delC",
"hgvs_p": "p.Ser15fs",
"transcript": "NM_001369425.1",
"protein_id": "NP_001356354.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 322,
"cds_start": 42,
"cds_end": null,
"cds_length": 969,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 2451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.42delC",
"hgvs_p": "p.Ser15fs",
"transcript": "ENST00000458496.2",
"protein_id": "ENSP00000403233.2",
"transcript_support_level": 4,
"aa_start": 14,
"aa_end": null,
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"cds_start": 42,
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"cdna_start": 297,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "ENST00000434573.1",
"protein_id": "ENSP00000402921.1",
"transcript_support_level": 4,
"aa_start": 85,
"aa_end": null,
"aa_length": 117,
"cds_start": 255,
"cds_end": null,
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"cdna_start": 486,
"cdna_end": null,
"cdna_length": 585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "XM_005274035.5",
"protein_id": "XP_005274092.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 885,
"cds_start": 255,
"cds_end": null,
"cds_length": 2658,
"cdna_start": 503,
"cdna_end": null,
"cdna_length": 5731,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "XM_047427071.1",
"protein_id": "XP_047283027.1",
"transcript_support_level": null,
"aa_start": 85,
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"cdna_start": 1282,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "XM_005274036.5",
"protein_id": "XP_005274093.2",
"transcript_support_level": null,
"aa_start": 85,
"aa_end": null,
"aa_length": 862,
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"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.255delC",
"hgvs_p": "p.Ser86fs",
"transcript": "XM_006718581.2",
"protein_id": "XP_006718644.1",
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"aa_start": 85,
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"cdna_start": 511,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.42delC",
"hgvs_p": "p.Ser15fs",
"transcript": "XM_011545092.4",
"protein_id": "XP_011543394.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 814,
"cds_start": 42,
"cds_end": null,
"cds_length": 2445,
"cdna_start": 267,
"cdna_end": null,
"cdna_length": 5495,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"frameshift_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KMT5B",
"gene_hgnc_id": 24283,
"hgvs_c": "c.42delC",
"hgvs_p": "p.Ser15fs",
"transcript": "XM_047427072.1",
"protein_id": "XP_047283028.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 791,
"cds_start": 42,
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}