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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: 4-113365050-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=113365050&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 113365050,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001148.6",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10900G>A",
"hgvs_p": "p.Val3634Ile",
"transcript": "NM_001148.6",
"protein_id": "NP_001139.3",
"transcript_support_level": null,
"aa_start": 3634,
"aa_end": null,
"aa_length": 3957,
"cds_start": 10900,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 10976,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "ENST00000357077.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10900G>A",
"hgvs_p": "p.Val3634Ile",
"transcript": "ENST00000357077.9",
"protein_id": "ENSP00000349588.4",
"transcript_support_level": 1,
"aa_start": 3634,
"aa_end": null,
"aa_length": 3957,
"cds_start": 10900,
"cds_end": null,
"cds_length": 11874,
"cdna_start": 10976,
"cdna_end": null,
"cdna_length": 14215,
"mane_select": "NM_001148.6",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11041G>A",
"hgvs_p": "p.Val3681Ile",
"transcript": "ENST00000506344.6",
"protein_id": "ENSP00000422888.2",
"transcript_support_level": 1,
"aa_start": 3681,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11041,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11291,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4645G>A",
"hgvs_p": "p.Val1549Ile",
"transcript": "ENST00000394537.7",
"protein_id": "ENSP00000378044.3",
"transcript_support_level": 1,
"aa_start": 1549,
"aa_end": null,
"aa_length": 1872,
"cds_start": 4645,
"cds_end": null,
"cds_length": 5619,
"cdna_start": 4698,
"cdna_end": null,
"cdna_length": 6313,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.4618G>A",
"hgvs_p": "p.Val1540Ile",
"transcript": "ENST00000506722.5",
"protein_id": "ENSP00000421067.1",
"transcript_support_level": 1,
"aa_start": 1540,
"aa_end": null,
"aa_length": 1863,
"cds_start": 4618,
"cds_end": null,
"cds_length": 5592,
"cdna_start": 4813,
"cdna_end": null,
"cdna_length": 8051,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1648G>A",
"hgvs_p": "p.Val550Ile",
"transcript": "ENST00000514960.5",
"protein_id": "ENSP00000422853.1",
"transcript_support_level": 1,
"aa_start": 550,
"aa_end": null,
"aa_length": 965,
"cds_start": 1648,
"cds_end": null,
"cds_length": 2898,
"cdna_start": 1649,
"cdna_end": null,
"cdna_length": 5160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.1327G>A",
"hgvs_p": "p.Val443Ile",
"transcript": "ENST00000510275.8",
"protein_id": "ENSP00000421023.4",
"transcript_support_level": 1,
"aa_start": 443,
"aa_end": null,
"aa_length": 683,
"cds_start": 1327,
"cds_end": null,
"cds_length": 2052,
"cdna_start": 1327,
"cdna_end": null,
"cdna_length": 4305,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 43,
"exon_rank_end": null,
"exon_count": 51,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11041G>A",
"hgvs_p": "p.Val3681Ile",
"transcript": "NM_001386174.1",
"protein_id": "NP_001373103.1",
"transcript_support_level": null,
"aa_start": 3681,
"aa_end": null,
"aa_length": 4183,
"cds_start": 11041,
"cds_end": null,
"cds_length": 12552,
"cdna_start": 11291,
"cdna_end": null,
"cdna_length": 14898,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.11017G>A",
"hgvs_p": "p.Val3673Ile",
"transcript": "NM_001386175.1",
"protein_id": "NP_001373104.1",
"transcript_support_level": null,
"aa_start": 3673,
"aa_end": null,
"aa_length": 4175,
"cds_start": 11017,
"cds_end": null,
"cds_length": 12528,
"cdna_start": 11267,
"cdna_end": null,
"cdna_length": 14874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10738G>A",
"hgvs_p": "p.Val3580Ile",
"transcript": "ENST00000672209.1",
"protein_id": "ENSP00000499982.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3995,
"cds_start": 10738,
"cds_end": null,
"cds_length": 11988,
"cdna_start": 10937,
"cdna_end": null,
"cdna_length": 14932,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10981G>A",
"hgvs_p": "p.Val3661Ile",
"transcript": "ENST00000672240.1",
"protein_id": "ENSP00000500548.1",
"transcript_support_level": null,
"aa_start": 3661,
"aa_end": null,
"aa_length": 3984,
"cds_start": 10981,
"cds_end": null,
"cds_length": 11955,
"cdna_start": 11574,
"cdna_end": null,
"cdna_length": 15298,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10945G>A",
"hgvs_p": "p.Val3649Ile",
"transcript": "ENST00000671971.1",
"protein_id": "ENSP00000499832.1",
"transcript_support_level": null,
"aa_start": 3649,
"aa_end": null,
"aa_length": 3972,
"cds_start": 10945,
"cds_end": null,
"cds_length": 11919,
"cdna_start": 11538,
"cdna_end": null,
"cdna_length": 15262,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10738G>A",
"hgvs_p": "p.Val3580Ile",
"transcript": "ENST00000673298.1",
"protein_id": "ENSP00000500245.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3964,
"cds_start": 10738,
"cds_end": null,
"cds_length": 11895,
"cdna_start": 10937,
"cdna_end": null,
"cdna_length": 14363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10738G>A",
"hgvs_p": "p.Val3580Ile",
"transcript": "ENST00000503423.6",
"protein_id": "ENSP00000421011.2",
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"aa_start": 3580,
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"cds_start": 10738,
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"cdna_start": 10937,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10666G>A",
"hgvs_p": "p.Val3556Ile",
"transcript": "NM_001386142.1",
"protein_id": "NP_001373071.1",
"transcript_support_level": null,
"aa_start": 3556,
"aa_end": null,
"aa_length": 3940,
"cds_start": 10666,
"cds_end": null,
"cds_length": 11823,
"cdna_start": 10865,
"cdna_end": null,
"cdna_length": 14287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10846G>A",
"hgvs_p": "p.Val3616Ile",
"transcript": "ENST00000673363.1",
"protein_id": "ENSP00000500539.1",
"transcript_support_level": null,
"aa_start": 3616,
"aa_end": null,
"aa_length": 3939,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10837G>A",
"hgvs_p": "p.Val3613Ile",
"transcript": "ENST00000672830.1",
"protein_id": "ENSP00000500222.1",
"transcript_support_level": null,
"aa_start": 3613,
"aa_end": null,
"aa_length": 3936,
"cds_start": 10837,
"cds_end": null,
"cds_length": 11811,
"cdna_start": 11047,
"cdna_end": null,
"cdna_length": 14771,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10738G>A",
"hgvs_p": "p.Val3580Ile",
"transcript": "ENST00000672068.1",
"protein_id": "ENSP00000499902.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3934,
"cds_start": 10738,
"cds_end": null,
"cds_length": 11805,
"cdna_start": 10937,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10801G>A",
"hgvs_p": "p.Val3601Ile",
"transcript": "ENST00000264366.10",
"protein_id": "ENSP00000264366.6",
"transcript_support_level": 5,
"aa_start": 3601,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10801G>A",
"hgvs_p": "p.Val3601Ile",
"transcript": "ENST00000672502.1",
"protein_id": "ENSP00000499870.1",
"transcript_support_level": null,
"aa_start": 3601,
"aa_end": null,
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"cds_start": 10801,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "I",
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 42,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10774G>A",
"hgvs_p": "p.Val3592Ile",
"transcript": "ENST00000671809.1",
"protein_id": "ENSP00000500872.1",
"transcript_support_level": null,
"aa_start": 3592,
"aa_end": null,
"aa_length": 3915,
"cds_start": 10774,
"cds_end": null,
"cds_length": 11748,
"cdna_start": 10973,
"cdna_end": null,
"cdna_length": 14697,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 41,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"hgvs_c": "c.10738G>A",
"hgvs_p": "p.Val3580Ile",
"transcript": "ENST00000672090.1",
"protein_id": "ENSP00000500540.1",
"transcript_support_level": null,
"aa_start": 3580,
"aa_end": null,
"aa_length": 3903,
"cds_start": 10738,
"cds_end": null,
"cds_length": 11712,
"cdna_start": 10937,
"cdna_end": null,
"cdna_length": 14661,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "V",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ANK2",
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "ANK2",
"gene_hgnc_id": 493,
"dbsnp": "rs143228029",
"frequency_reference_population": 0.000028507226,
"hom_count_reference_population": 0,
"allele_count_reference_population": 46,
"gnomad_exomes_af": 0.0000294204,
"gnomad_genomes_af": 0.0000197298,
"gnomad_exomes_ac": 43,
"gnomad_genomes_ac": 3,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.13728106021881104,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.413,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.0525,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.11,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 3.985,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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": -6,
"acmg_classification": "Likely_benign",
"acmg_criteria": "BP4_Moderate,BS2",
"acmg_by_gene": [
{
"score": -6,
"benign_score": 6,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BS2"
],
"verdict": "Likely_benign",
"transcript": "NM_001148.6",
"gene_symbol": "ANK2",
"hgnc_id": 493,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,Unknown",
"hgvs_c": "c.10900G>A",
"hgvs_p": "p.Val3634Ile"
}
],
"clinvar_disease": "Congenital long QT syndrome,Long QT syndrome",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1 O:1",
"phenotype_combined": "Congenital long QT syndrome|Long QT syndrome",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}