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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: 2-219482787-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=219482787&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 219482787,
"ref": "C",
"alt": "T",
"effect": "stop_gained",
"transcript": "NM_005876.5",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5569C>T",
"hgvs_p": "p.Gln1857*",
"transcript": "NM_005876.5",
"protein_id": "NP_005867.3",
"transcript_support_level": null,
"aa_start": 1857,
"aa_end": null,
"aa_length": 3267,
"cds_start": 5569,
"cds_end": null,
"cds_length": 9804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000312358.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005876.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5569C>T",
"hgvs_p": "p.Gln1857*",
"transcript": "ENST00000312358.12",
"protein_id": "ENSP00000311684.7",
"transcript_support_level": 5,
"aa_start": 1857,
"aa_end": null,
"aa_length": 3267,
"cds_start": 5569,
"cds_end": null,
"cds_length": 9804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005876.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000312358.12"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5599C>T",
"hgvs_p": "p.Gln1867*",
"transcript": "XM_011510479.3",
"protein_id": "XP_011508781.1",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 3277,
"cds_start": 5599,
"cds_end": null,
"cds_length": 9834,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011510479.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5599C>T",
"hgvs_p": "p.Gln1867*",
"transcript": "XM_047442891.1",
"protein_id": "XP_047298847.1",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 3269,
"cds_start": 5599,
"cds_end": null,
"cds_length": 9810,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442891.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5422C>T",
"hgvs_p": "p.Gln1808*",
"transcript": "XM_047442892.1",
"protein_id": "XP_047298848.1",
"transcript_support_level": null,
"aa_start": 1808,
"aa_end": null,
"aa_length": 3218,
"cds_start": 5422,
"cds_end": null,
"cds_length": 9657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442892.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5416C>T",
"hgvs_p": "p.Gln1806*",
"transcript": "XM_047442893.1",
"protein_id": "XP_047298849.1",
"transcript_support_level": null,
"aa_start": 1806,
"aa_end": null,
"aa_length": 3216,
"cds_start": 5416,
"cds_end": null,
"cds_length": 9651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442893.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 29,
"exon_rank_end": null,
"exon_count": 41,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5392C>T",
"hgvs_p": "p.Gln1798*",
"transcript": "XM_047442894.1",
"protein_id": "XP_047298850.1",
"transcript_support_level": null,
"aa_start": 1798,
"aa_end": null,
"aa_length": 3208,
"cds_start": 5392,
"cds_end": null,
"cds_length": 9627,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442894.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5287C>T",
"hgvs_p": "p.Gln1763*",
"transcript": "XM_005246237.3",
"protein_id": "XP_005246294.1",
"transcript_support_level": null,
"aa_start": 1763,
"aa_end": null,
"aa_length": 3173,
"cds_start": 5287,
"cds_end": null,
"cds_length": 9522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246237.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5257C>T",
"hgvs_p": "p.Gln1753*",
"transcript": "XM_006712189.4",
"protein_id": "XP_006712252.1",
"transcript_support_level": null,
"aa_start": 1753,
"aa_end": null,
"aa_length": 3163,
"cds_start": 5257,
"cds_end": null,
"cds_length": 9492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712189.4"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 28,
"exon_rank_end": null,
"exon_count": 40,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5209C>T",
"hgvs_p": "p.Gln1737*",
"transcript": "XM_047442895.1",
"protein_id": "XP_047298851.1",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 3147,
"cds_start": 5209,
"cds_end": null,
"cds_length": 9444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442895.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5110C>T",
"hgvs_p": "p.Gln1704*",
"transcript": "XM_047442896.1",
"protein_id": "XP_047298852.1",
"transcript_support_level": null,
"aa_start": 1704,
"aa_end": null,
"aa_length": 3114,
"cds_start": 5110,
"cds_end": null,
"cds_length": 9345,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442896.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 42,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5080C>T",
"hgvs_p": "p.Gln1694*",
"transcript": "XM_047442897.1",
"protein_id": "XP_047298853.1",
"transcript_support_level": null,
"aa_start": 1694,
"aa_end": null,
"aa_length": 3104,
"cds_start": 5080,
"cds_end": null,
"cds_length": 9315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442897.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 30,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.5599C>T",
"hgvs_p": "p.Gln1867*",
"transcript": "XM_017003159.3",
"protein_id": "XP_016858648.2",
"transcript_support_level": null,
"aa_start": 1867,
"aa_end": null,
"aa_length": 2632,
"cds_start": 5599,
"cds_end": null,
"cds_length": 7899,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017003159.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3208C>T",
"hgvs_p": "p.Gln1070*",
"transcript": "XM_005246242.5",
"protein_id": "XP_005246299.1",
"transcript_support_level": null,
"aa_start": 1070,
"aa_end": null,
"aa_length": 2480,
"cds_start": 3208,
"cds_end": null,
"cds_length": 7443,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246242.5"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3193C>T",
"hgvs_p": "p.Gln1065*",
"transcript": "XM_005246239.3",
"protein_id": "XP_005246296.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2475,
"cds_start": 3193,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246239.3"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 43,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3193C>T",
"hgvs_p": "p.Gln1065*",
"transcript": "XM_047442898.1",
"protein_id": "XP_047298854.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2475,
"cds_start": 3193,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442898.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 26,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3193C>T",
"hgvs_p": "p.Gln1065*",
"transcript": "XM_047442900.1",
"protein_id": "XP_047298856.1",
"transcript_support_level": null,
"aa_start": 1065,
"aa_end": null,
"aa_length": 2475,
"cds_start": 3193,
"cds_end": null,
"cds_length": 7428,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047442900.1"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3022C>T",
"hgvs_p": "p.Gln1008*",
"transcript": "XM_005246240.2",
"protein_id": "XP_005246297.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 2418,
"cds_start": 3022,
"cds_end": null,
"cds_length": 7257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246240.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3022C>T",
"hgvs_p": "p.Gln1008*",
"transcript": "XM_005246241.2",
"protein_id": "XP_005246298.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 2418,
"cds_start": 3022,
"cds_end": null,
"cds_length": 7257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_005246241.2"
},
{
"aa_ref": "Q",
"aa_alt": "*",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"stop_gained"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "c.3022C>T",
"hgvs_p": "p.Gln1008*",
"transcript": "XM_006712193.4",
"protein_id": "XP_006712256.1",
"transcript_support_level": null,
"aa_start": 1008,
"aa_end": null,
"aa_length": 2418,
"cds_start": 3022,
"cds_end": null,
"cds_length": 7257,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006712193.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 27,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SPEG",
"gene_hgnc_id": 16901,
"hgvs_c": "n.4812C>T",
"hgvs_p": null,
"transcript": "ENST00000485813.5",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000485813.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ASIC4-AS1",
"gene_hgnc_id": 40960,
"hgvs_c": "n.183-378G>A",
"hgvs_p": null,
"transcript": "ENST00000429882.1",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
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{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
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"exon_count": 2,
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"gene_symbol": "ASIC4-AS1",
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"hgvs_c": "n.392-378G>A",
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"transcript": "XR_923921.2",
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"aa_start": null,
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"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
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"biotype": "pseudogene",
"feature": "XR_923921.2"
}
],
"gene_symbol": "SPEG",
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"dbsnp": "rs373797506",
"frequency_reference_population": 6.842538e-7,
"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
"gnomad_exomes_af": 6.84254e-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": 0.2800000011920929,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0.019999999552965164,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.28,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 0.459,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.02,
"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": 10,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2",
"acmg_by_gene": [
{
"score": 10,
"benign_score": 0,
"pathogenic_score": 10,
"criteria": [
"PVS1",
"PM2"
],
"verdict": "Pathogenic",
"transcript": "NM_005876.5",
"gene_symbol": "SPEG",
"hgnc_id": 16901,
"effects": [
"stop_gained"
],
"inheritance_mode": "AR",
"hgvs_c": "c.5569C>T",
"hgvs_p": "p.Gln1857*"
},
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PP3_Strong"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000429882.1",
"gene_symbol": "ASIC4-AS1",
"hgnc_id": 40960,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.183-378G>A",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}