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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: 11-77201573-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=77201573&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 77201573,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000409709.9",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Gly1660Arg",
"transcript": "NM_000260.4",
"protein_id": "NP_000251.3",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2215,
"cds_start": 4978,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 5268,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "ENST00000409709.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Gly1660Arg",
"transcript": "ENST00000409709.9",
"protein_id": "ENSP00000386331.3",
"transcript_support_level": 1,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2215,
"cds_start": 4978,
"cds_end": null,
"cds_length": 6648,
"cdna_start": 5268,
"cdna_end": null,
"cdna_length": 7483,
"mane_select": "NM_000260.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Gly1622Arg",
"transcript": "ENST00000458637.6",
"protein_id": "ENSP00000392185.2",
"transcript_support_level": 1,
"aa_start": 1622,
"aa_end": null,
"aa_length": 2175,
"cds_start": 4864,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 5130,
"cdna_end": null,
"cdna_length": 7336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4831G>A",
"hgvs_p": "p.Gly1611Arg",
"transcript": "ENST00000409619.6",
"protein_id": "ENSP00000386635.2",
"transcript_support_level": 1,
"aa_start": 1611,
"aa_end": null,
"aa_length": 2166,
"cds_start": 4831,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5178,
"cdna_end": null,
"cdna_length": 7106,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.2404G>A",
"hgvs_p": "p.Gly802Arg",
"transcript": "ENST00000458169.2",
"protein_id": "ENSP00000417017.2",
"transcript_support_level": 1,
"aa_start": 802,
"aa_end": null,
"aa_length": 1357,
"cds_start": 2404,
"cds_end": null,
"cds_length": 4074,
"cdna_start": 2404,
"cdna_end": null,
"cdna_length": 4616,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 32,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "n.2818G>A",
"hgvs_p": null,
"transcript": "ENST00000670577.1",
"protein_id": "ENSP00000499323.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4966,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 49,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4864G>A",
"hgvs_p": "p.Gly1622Arg",
"transcript": "NM_001127180.2",
"protein_id": "NP_001120652.1",
"transcript_support_level": null,
"aa_start": 1622,
"aa_end": null,
"aa_length": 2175,
"cds_start": 4864,
"cds_end": null,
"cds_length": 6528,
"cdna_start": 5154,
"cdna_end": null,
"cdna_length": 7363,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 50,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4831G>A",
"hgvs_p": "p.Gly1611Arg",
"transcript": "NM_001369365.1",
"protein_id": "NP_001356294.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 2166,
"cds_start": 4831,
"cds_end": null,
"cds_length": 6501,
"cdna_start": 5234,
"cdna_end": null,
"cdna_length": 7449,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Gly1690Arg",
"transcript": "XM_011545046.3",
"protein_id": "XP_011543348.2",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 2258,
"cds_start": 5068,
"cds_end": null,
"cds_length": 6777,
"cdna_start": 5165,
"cdna_end": null,
"cdna_length": 7190,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5062G>A",
"hgvs_p": "p.Gly1688Arg",
"transcript": "XM_017017778.2",
"protein_id": "XP_016873267.1",
"transcript_support_level": null,
"aa_start": 1688,
"aa_end": null,
"aa_length": 2256,
"cds_start": 5062,
"cds_end": null,
"cds_length": 6771,
"cdna_start": 5159,
"cdna_end": null,
"cdna_length": 7184,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5059G>A",
"hgvs_p": "p.Gly1687Arg",
"transcript": "XM_017017779.2",
"protein_id": "XP_016873268.1",
"transcript_support_level": null,
"aa_start": 1687,
"aa_end": null,
"aa_length": 2255,
"cds_start": 5059,
"cds_end": null,
"cds_length": 6768,
"cdna_start": 5156,
"cdna_end": null,
"cdna_length": 7181,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Gly1690Arg",
"transcript": "XM_017017780.2",
"protein_id": "XP_016873269.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 2245,
"cds_start": 5068,
"cds_end": null,
"cds_length": 6738,
"cdna_start": 5165,
"cdna_end": null,
"cdna_length": 7380,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Gly1660Arg",
"transcript": "XM_011545044.3",
"protein_id": "XP_011543346.1",
"transcript_support_level": null,
"aa_start": 1660,
"aa_end": null,
"aa_length": 2228,
"cds_start": 4978,
"cds_end": null,
"cds_length": 6687,
"cdna_start": 5268,
"cdna_end": null,
"cdna_length": 7293,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4972G>A",
"hgvs_p": "p.Gly1658Arg",
"transcript": "XM_017017781.2",
"protein_id": "XP_016873270.1",
"transcript_support_level": null,
"aa_start": 1658,
"aa_end": null,
"aa_length": 2226,
"cds_start": 4972,
"cds_end": null,
"cds_length": 6681,
"cdna_start": 5069,
"cdna_end": null,
"cdna_length": 7094,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4954G>A",
"hgvs_p": "p.Gly1652Arg",
"transcript": "XM_017017782.2",
"protein_id": "XP_016873271.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 2220,
"cds_start": 4954,
"cds_end": null,
"cds_length": 6663,
"cdna_start": 5051,
"cdna_end": null,
"cdna_length": 7075,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4951G>A",
"hgvs_p": "p.Gly1651Arg",
"transcript": "XM_017017783.2",
"protein_id": "XP_016873272.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 2219,
"cds_start": 4951,
"cds_end": null,
"cds_length": 6660,
"cdna_start": 5048,
"cdna_end": null,
"cdna_length": 7072,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4945G>A",
"hgvs_p": "p.Gly1649Arg",
"transcript": "XM_047426973.1",
"protein_id": "XP_047282929.1",
"transcript_support_level": null,
"aa_start": 1649,
"aa_end": null,
"aa_length": 2217,
"cds_start": 4945,
"cds_end": null,
"cds_length": 6654,
"cdna_start": 5052,
"cdna_end": null,
"cdna_length": 7077,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4954G>A",
"hgvs_p": "p.Gly1652Arg",
"transcript": "XM_017017788.2",
"protein_id": "XP_016873277.1",
"transcript_support_level": null,
"aa_start": 1652,
"aa_end": null,
"aa_length": 2207,
"cds_start": 4954,
"cds_end": null,
"cds_length": 6624,
"cdna_start": 5051,
"cdna_end": null,
"cdna_length": 7266,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 48,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4951G>A",
"hgvs_p": "p.Gly1651Arg",
"transcript": "XM_017017784.2",
"protein_id": "XP_016873273.1",
"transcript_support_level": null,
"aa_start": 1651,
"aa_end": null,
"aa_length": 2206,
"cds_start": 4951,
"cds_end": null,
"cds_length": 6621,
"cdna_start": 5048,
"cdna_end": null,
"cdna_length": 7263,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 46,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4882G>A",
"hgvs_p": "p.Gly1628Arg",
"transcript": "XM_047426970.1",
"protein_id": "XP_047282926.1",
"transcript_support_level": null,
"aa_start": 1628,
"aa_end": null,
"aa_length": 2196,
"cds_start": 4882,
"cds_end": null,
"cds_length": 6591,
"cdna_start": 5172,
"cdna_end": null,
"cdna_length": 7197,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 34,
"exon_rank_end": null,
"exon_count": 44,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.4831G>A",
"hgvs_p": "p.Gly1611Arg",
"transcript": "XM_017017785.2",
"protein_id": "XP_016873274.1",
"transcript_support_level": null,
"aa_start": 1611,
"aa_end": null,
"aa_length": 2179,
"cds_start": 4831,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 4928,
"cdna_end": null,
"cdna_length": 6953,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 47,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"hgvs_c": "c.5068G>A",
"hgvs_p": "p.Gly1690Arg",
"transcript": "XM_017017786.2",
"protein_id": "XP_016873275.1",
"transcript_support_level": null,
"aa_start": 1690,
"aa_end": null,
"aa_length": 2154,
"cds_start": 5068,
"cds_end": null,
"cds_length": 6465,
"cdna_start": 5165,
"cdna_end": null,
"cdna_length": 6673,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 35,
"exon_rank_end": null,
"exon_count": 45,
"intron_rank": null,
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{
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{
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},
{
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},
{
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},
{
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],
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"hgvs_c": "n.5165G>A",
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"transcript": "XR_001747888.2",
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}
],
"gene_symbol": "MYO7A",
"gene_hgnc_id": 7606,
"dbsnp": "rs771889662",
"frequency_reference_population": 0.0000012393201,
"hom_count_reference_population": 0,
"allele_count_reference_population": 2,
"gnomad_exomes_af": 6.84161e-7,
"gnomad_genomes_af": 0.00000657272,
"gnomad_exomes_ac": 1,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9156666398048401,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.893,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.9958,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.35,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 9.602,
"phylop100way_prediction": "Pathogenic",
"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": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
"benign_score": 0,
"pathogenic_score": 4,
"criteria": [
"PM2",
"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000409709.9",
"gene_symbol": "MYO7A",
"hgnc_id": 7606,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.4978G>A",
"hgvs_p": "p.Gly1660Arg"
}
],
"clinvar_disease": "Retinal dystrophy,Usher syndrome type 1,Usher syndrome type 1B,not provided,not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2 O:1",
"phenotype_combined": "not specified|Usher syndrome type 1|not provided|Usher syndrome type 1B|Retinal dystrophy",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}