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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: 15-49239251-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=15&pos=49239251&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "15",
"pos": 49239251,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_002044.4",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "NM_002044.4",
"protein_id": "NP_002035.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 458,
"cds_start": 388,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "ENST00000560031.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "ENST00000560031.6",
"protein_id": "ENSP00000453129.1",
"transcript_support_level": 1,
"aa_start": 130,
"aa_end": null,
"aa_length": 458,
"cds_start": 388,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 464,
"cdna_end": null,
"cdna_length": 5176,
"mane_select": "NM_002044.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Met119Val",
"transcript": "ENST00000327171.7",
"protein_id": "ENSP00000316632.3",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 447,
"cds_start": 355,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 587,
"cdna_end": null,
"cdna_length": 5299,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001352047.1",
"protein_id": "NP_001338976.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 329,
"cds_start": 1,
"cds_end": null,
"cds_length": 990,
"cdna_start": 823,
"cdna_end": null,
"cdna_length": 2923,
"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": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "NM_001352048.2",
"protein_id": "NP_001338977.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 329,
"cds_start": 1,
"cds_end": null,
"cds_length": 990,
"cdna_start": 723,
"cdna_end": null,
"cdna_length": 2823,
"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": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047432351.1",
"protein_id": "XP_047288307.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 372,
"cds_start": 1,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 355,
"cdna_end": null,
"cdna_length": 1682,
"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": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.1A>G",
"hgvs_p": "p.Met1?",
"transcript": "XM_047432352.1",
"protein_id": "XP_047288308.1",
"transcript_support_level": null,
"aa_start": 1,
"aa_end": null,
"aa_length": 372,
"cds_start": 1,
"cds_end": null,
"cds_length": 1119,
"cdna_start": 6842,
"cdna_end": null,
"cdna_length": 8169,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Met119Val",
"transcript": "NM_001001556.3",
"protein_id": "NP_001001556.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 447,
"cds_start": 355,
"cds_end": null,
"cds_length": 1344,
"cdna_start": 578,
"cdna_end": null,
"cdna_length": 5290,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "NM_001289030.2",
"protein_id": "NP_001275959.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 434,
"cds_start": 316,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 594,
"cdna_end": null,
"cdna_length": 5306,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "NM_001289031.1",
"protein_id": "NP_001275960.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 434,
"cds_start": 316,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 3313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "ENST00000396509.6",
"protein_id": "ENSP00000379766.2",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 434,
"cds_start": 316,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 490,
"cdna_end": null,
"cdna_length": 1834,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "ENST00000544523.5",
"protein_id": "ENSP00000440312.1",
"transcript_support_level": 2,
"aa_start": 106,
"aa_end": null,
"aa_length": 434,
"cds_start": 316,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 1950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "ENST00000559454.5",
"protein_id": "ENSP00000453133.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 434,
"cds_start": 316,
"cds_end": null,
"cds_length": 1305,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 1768,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "ENST00000560138.5",
"protein_id": "ENSP00000452614.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 208,
"cds_start": 316,
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"cdna_start": 411,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "ENST00000560654.5",
"protein_id": "ENSP00000453961.1",
"transcript_support_level": 5,
"aa_start": 106,
"aa_end": null,
"aa_length": 130,
"cds_start": 316,
"cds_end": null,
"cds_length": 395,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 784,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "XM_047432347.1",
"protein_id": "XP_047288303.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
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"cds_start": 316,
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"cdna_start": 678,
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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": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "XM_047432348.1",
"protein_id": "XP_047288304.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 477,
"cds_start": 316,
"cds_end": null,
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"cdna_start": 465,
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"cdna_length": 1792,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.388A>G",
"hgvs_p": "p.Met130Val",
"transcript": "XM_006720461.5",
"protein_id": "XP_006720524.1",
"transcript_support_level": null,
"aa_start": 130,
"aa_end": null,
"aa_length": 458,
"cds_start": 388,
"cds_end": null,
"cds_length": 1377,
"cdna_start": 464,
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"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.355A>G",
"hgvs_p": "p.Met119Val",
"transcript": "XM_047432349.1",
"protein_id": "XP_047288305.1",
"transcript_support_level": null,
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"aa_end": null,
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"mane_select": null,
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},
{
"aa_ref": "M",
"aa_alt": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
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"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "XM_024449892.2",
"protein_id": "XP_024305660.1",
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"aa_start": 106,
"aa_end": null,
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"feature": null
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "XM_047432350.1",
"protein_id": "XP_047288306.1",
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"aa_start": 106,
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"cds_start": 316,
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"cdna_start": 678,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "XM_024449894.2",
"protein_id": "XP_024305662.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 405,
"cds_start": 316,
"cds_end": null,
"cds_length": 1218,
"cdna_start": 678,
"cdna_end": null,
"cdna_length": 1789,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "M",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GALK2",
"gene_hgnc_id": 4119,
"hgvs_c": "c.316A>G",
"hgvs_p": "p.Met106Val",
"transcript": "XM_047432353.1",
"protein_id": "XP_047288309.1",
"transcript_support_level": null,
"aa_start": 106,
"aa_end": null,
"aa_length": 350,
"cds_start": 316,
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{
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"verdict": "Uncertain_significance",
"transcript": "NM_002044.4",
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"inheritance_mode": "AR",
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{
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],
"verdict": "Uncertain_significance",
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],
"inheritance_mode": "",
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}
],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}