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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: 2-71665197-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71665197&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71665197,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5210C>G",
"hgvs_p": "p.Pro1737Arg",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 1737,
"aa_end": null,
"aa_length": 2119,
"cds_start": 5210,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 5354,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5210C>G",
"hgvs_p": "p.Pro1737Arg",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 1737,
"aa_end": null,
"aa_length": 2119,
"cds_start": 5210,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 5354,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5093C>G",
"hgvs_p": "p.Pro1698Arg",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 1698,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5093,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 5531,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5093C>G",
"hgvs_p": "p.Pro1698Arg",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 1698,
"aa_end": null,
"aa_length": 2080,
"cds_start": 5093,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 5531,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5207C>G",
"hgvs_p": "p.Pro1736Arg",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 1736,
"aa_end": null,
"aa_length": 2118,
"cds_start": 5207,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 5484,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5189C>G",
"hgvs_p": "p.Pro1730Arg",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 1730,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5189,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5330,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5186C>G",
"hgvs_p": "p.Pro1729Arg",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 1729,
"aa_end": null,
"aa_length": 2111,
"cds_start": 5186,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 5463,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5159C>G",
"hgvs_p": "p.Pro1720Arg",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 1720,
"aa_end": null,
"aa_length": 2102,
"cds_start": 5159,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 5300,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5156C>G",
"hgvs_p": "p.Pro1719Arg",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5156,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 5433,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5147C>G",
"hgvs_p": "p.Pro1716Arg",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 1716,
"aa_end": null,
"aa_length": 2098,
"cds_start": 5147,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 5288,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5144C>G",
"hgvs_p": "p.Pro1715Arg",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 1715,
"aa_end": null,
"aa_length": 2097,
"cds_start": 5144,
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"cds_length": 6294,
"cdna_start": 5421,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5117C>G",
"hgvs_p": "p.Pro1706Arg",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 1706,
"aa_end": null,
"aa_length": 2088,
"cds_start": 5117,
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"cds_length": 6267,
"cdna_start": 5258,
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"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5096C>G",
"hgvs_p": "p.Pro1699Arg",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
"transcript_support_level": 1,
"aa_start": 1699,
"aa_end": null,
"aa_length": 2081,
"cds_start": 5096,
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"cds_length": 6246,
"cdna_start": 5237,
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"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5207C>G",
"hgvs_p": "p.Pro1736Arg",
"transcript": "NM_001130981.2",
"protein_id": "NP_001124453.1",
"transcript_support_level": null,
"aa_start": 1736,
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"cds_start": 5207,
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"cdna_start": 5645,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5189C>G",
"hgvs_p": "p.Pro1730Arg",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 1730,
"aa_end": null,
"aa_length": 2112,
"cds_start": 5189,
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"cdna_start": 5333,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5186C>G",
"hgvs_p": "p.Pro1729Arg",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
"transcript_support_level": null,
"aa_start": 1729,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5159C>G",
"hgvs_p": "p.Pro1720Arg",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 1720,
"aa_end": null,
"aa_length": 2102,
"cds_start": 5159,
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"cdna_start": 5303,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 47,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5156C>G",
"hgvs_p": "p.Pro1719Arg",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 1719,
"aa_end": null,
"aa_length": 2101,
"cds_start": 5156,
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"cdna_start": 5594,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5147C>G",
"hgvs_p": "p.Pro1716Arg",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5144C>G",
"hgvs_p": "p.Pro1715Arg",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
"transcript_support_level": null,
"aa_start": 1715,
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"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
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"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5117C>G",
"hgvs_p": "p.Pro1706Arg",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
"transcript_support_level": null,
"aa_start": 1706,
"aa_end": null,
"aa_length": 2088,
"cds_start": 5117,
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"cdna_start": 5261,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.5114C>G",
"hgvs_p": "p.Pro1705Arg",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
"aa_start": 1705,
"aa_end": null,
"aa_length": 2087,
"cds_start": 5114,
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"cdna_start": 5552,
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"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "P",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 46,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
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],
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"dbsnp": "rs776452710",
"frequency_reference_population": 6.841377e-7,
"hom_count_reference_population": 0,
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"gnomad_exomes_af": 6.84138e-7,
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"computational_score_selected": 0.9290412664413452,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.908,
"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.46,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"acmg_score": 7,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM1,PM2,PP3_Moderate,PP5",
"acmg_by_gene": [
{
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"pathogenic_score": 7,
"criteria": [
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"PM2",
"PP3_Moderate",
"PP5"
],
"verdict": "Likely_pathogenic",
"transcript": "ENST00000410020.8",
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}
],
"clinvar_disease": "Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,not provided",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "P:1 US:1",
"phenotype_combined": "Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}