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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: 17-75283543-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=75283543&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 75283543,
"ref": "A",
"alt": "C",
"effect": "stop_gained",
"transcript": "ENST00000416858.7",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "NM_001126121.2",
"protein_id": "NP_001119593.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": "ENST00000416858.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000416858.7",
"protein_id": "ENSP00000397818.2",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 547,
"cdna_end": null,
"cdna_length": 1630,
"mane_select": "NM_001126121.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000402418.7",
"protein_id": "ENSP00000385312.3",
"transcript_support_level": 1,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 1249,
"cdna_end": null,
"cdna_length": 2331,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "NM_001126122.2",
"protein_id": "NP_001119594.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 457,
"cdna_end": null,
"cdna_length": 1540,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "NM_021734.5",
"protein_id": "NP_068380.3",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 1614,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000320362.7",
"protein_id": "ENSP00000319574.3",
"transcript_support_level": 2,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 569,
"cdna_end": null,
"cdna_length": 1651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000442286.6",
"protein_id": "ENSP00000402202.2",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 414,
"cdna_end": null,
"cdna_length": 1496,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000580994.5",
"protein_id": "ENSP00000463795.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000583332.5",
"protein_id": "ENSP00000462214.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 181,
"cds_start": 339,
"cds_end": null,
"cds_length": 548,
"cdna_start": 484,
"cdna_end": null,
"cdna_length": 693,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000579207.5",
"protein_id": "ENSP00000463720.1",
"transcript_support_level": 3,
"aa_start": 113,
"aa_end": null,
"aa_length": 152,
"cds_start": 339,
"cds_end": null,
"cds_length": 459,
"cdna_start": 735,
"cdna_end": null,
"cdna_length": 855,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "ENST00000580151.5",
"protein_id": "ENSP00000462299.1",
"transcript_support_level": 5,
"aa_start": 113,
"aa_end": null,
"aa_length": 150,
"cds_start": 339,
"cds_end": null,
"cds_length": 453,
"cdna_start": 634,
"cdna_end": null,
"cdna_length": 748,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.36T>G",
"hgvs_p": "p.Tyr12*",
"transcript": "ENST00000580273.1",
"protein_id": "ENSP00000463039.1",
"transcript_support_level": 2,
"aa_start": 12,
"aa_end": null,
"aa_length": 83,
"cds_start": 36,
"cds_end": null,
"cds_length": 254,
"cdna_start": 364,
"cdna_end": null,
"cdna_length": 582,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_005257559.5",
"protein_id": "XP_005257616.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 661,
"cdna_end": null,
"cdna_length": 1744,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_005257560.3",
"protein_id": "XP_005257617.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
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"cdna_start": 812,
"cdna_end": null,
"cdna_length": 1895,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_005257561.5",
"protein_id": "XP_005257618.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 551,
"cdna_end": null,
"cdna_length": 1634,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_005257562.3",
"protein_id": "XP_005257619.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
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"cdna_start": 796,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_006722007.3",
"protein_id": "XP_006722070.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 816,
"cdna_end": null,
"cdna_length": 1899,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_047436512.1",
"protein_id": "XP_047292468.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
"cds_end": null,
"cds_length": 963,
"cdna_start": 2004,
"cdna_end": null,
"cdna_length": 3087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_047436513.1",
"protein_id": "XP_047292469.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 320,
"cds_start": 339,
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"cdna_start": 2134,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_017024928.3",
"protein_id": "XP_016880417.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 215,
"cds_start": 339,
"cds_end": null,
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"cdna_start": 547,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"stop_gained"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*",
"transcript": "XM_047436514.1",
"protein_id": "XP_047292470.1",
"transcript_support_level": null,
"aa_start": 113,
"aa_end": null,
"aa_length": 215,
"cds_start": 339,
"cds_end": null,
"cds_length": 648,
"cdna_start": 531,
"cdna_end": null,
"cdna_length": 1299,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.288+2761T>G",
"hgvs_p": null,
"transcript": "ENST00000375261.8",
"protein_id": "ENSP00000364410.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 263,
"cds_start": -4,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "SLC25A19",
"gene_hgnc_id": 14409,
"hgvs_c": "c.150+2857T>G",
"hgvs_p": null,
"transcript": "ENST00000582822.1",
"protein_id": "ENSP00000462401.1",
"transcript_support_level": 3,
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"aa_length": 66,
"cds_start": -4,
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"cds_length": 201,
"cdna_start": null,
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"cdna_length": 448,
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"mane_plus": null,
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"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"downstream_gene_variant"
],
"exon_rank": null,
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"exon_count": 5,
"intron_rank": null,
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"gene_symbol": "SLC25A19",
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"hgvs_c": "c.*22T>G",
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"transcript": "ENST00000581988.5",
"protein_id": "ENSP00000463428.1",
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"aa_length": 104,
"cds_start": -4,
"cds_end": null,
"cds_length": 317,
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"cdna_length": 717,
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"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "SLC25A19",
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"dbsnp": "rs7213318",
"frequency_reference_population": 6.842669e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84267e-7,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.019999999552965164,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.05000000074505806,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.02,
"bayesdelnoaf_prediction": "Uncertain_significance",
"phylop100way_score": -0.025,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.05,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000416858.7",
"gene_symbol": "SLC25A19",
"hgnc_id": 14409,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.339T>G",
"hgvs_p": "p.Tyr113*"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}