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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: 3-183650357-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=183650357&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 183650357,
"ref": "A",
"alt": "G",
"effect": "start_lost",
"transcript": "ENST00000242810.11",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_017644.3",
"protein_id": "NP_060114.2",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": "ENST00000242810.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000242810.11",
"protein_id": "ENSP00000242810.6",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 7331,
"mane_select": "NM_017644.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000454652.6",
"protein_id": "ENSP00000395012.1",
"transcript_support_level": 1,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349413.1",
"protein_id": "NP_001336342.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 625,
"cds_start": 1,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 296,
"cdna_end": null,
"cdna_length": 7406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349414.1",
"protein_id": "NP_001336343.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 625,
"cds_start": 1,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 7388,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349415.1",
"protein_id": "NP_001336344.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 625,
"cds_start": 1,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 233,
"cdna_end": null,
"cdna_length": 7343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349416.1",
"protein_id": "NP_001336345.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 625,
"cds_start": 1,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 250,
"cdna_end": null,
"cdna_length": 7360,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349417.1",
"protein_id": "NP_001336346.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 625,
"cds_start": 1,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 7451,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349418.1",
"protein_id": "NP_001336347.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 625,
"cds_start": 1,
"cds_end": null,
"cds_length": 1878,
"cdna_start": 387,
"cdna_end": null,
"cdna_length": 7497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349419.1",
"protein_id": "NP_001336348.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 2086,
"cdna_end": null,
"cdna_length": 9121,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349420.1",
"protein_id": "NP_001336349.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
"cds_end": null,
"cds_length": 1803,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 7376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349421.1",
"protein_id": "NP_001336350.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
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"cds_length": 1803,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 7257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349422.1",
"protein_id": "NP_001336351.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
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"cds_length": 1803,
"cdna_start": 278,
"cdna_end": null,
"cdna_length": 7313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349423.1",
"protein_id": "NP_001336352.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
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"cdna_start": 233,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
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"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
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"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349424.1",
"protein_id": "NP_001336353.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
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"cdna_start": 324,
"cdna_end": null,
"cdna_length": 7359,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349425.1",
"protein_id": "NP_001336354.1",
"transcript_support_level": null,
"aa_start": 1,
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"cds_start": 1,
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"cdna_start": 250,
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"mane_select": null,
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"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
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"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001349426.1",
"protein_id": "NP_001336355.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 600,
"cds_start": 1,
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"cdna_start": 187,
"cdna_end": null,
"cdna_length": 7222,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000476808.1",
"protein_id": "ENSP00000419010.1",
"transcript_support_level": 2,
"aa_start": 1,
"aa_end": null,
"aa_length": 537,
"cds_start": 1,
"cds_end": null,
"cds_length": 1614,
"cdna_start": 1,
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"cdna_length": 2126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000482138.1",
"protein_id": "ENSP00000417275.1",
"transcript_support_level": 4,
"aa_start": 1,
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"cds_start": 1,
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"mane_select": null,
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},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
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"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000493074.1",
"protein_id": "ENSP00000417347.1",
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"aa_start": 1,
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"cds_start": 1,
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"cdna_start": 246,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
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"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000468001.1",
"protein_id": "ENSP00000418922.1",
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"cds_start": 1,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000454495.6",
"protein_id": "ENSP00000416836.2",
"transcript_support_level": 3,
"aa_start": 1,
"aa_end": null,
"aa_length": 116,
"cds_start": 1,
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"cds_length": 351,
"cdna_start": 253,
"cdna_end": null,
"cdna_length": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"start_lost"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "KLHL24",
"gene_hgnc_id": 25947,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "ENST00000427201.2",
"protein_id": "ENSP00000408567.2",
"transcript_support_level": 4,
"aa_start": 1,
"aa_end": null,
"aa_length": 112,
"cds_start": 1,
"cds_end": null,
"cds_length": 341,
"cdna_start": 222,
"cdna_end": null,
"cdna_length": 562,
"mane_select": null,
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"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:5",
"phenotype_combined": "Epidermolysis bullosa simplex, Koebner type|Epidermolysis bullosa simplex 6, generalized, with scarring and hair loss|not provided|KLHL24-related disorder",
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}
],
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}