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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: 2-71660586-AG-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71660586&ref=AG&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71660586,
"ref": "AG",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4941delG",
"hgvs_p": "p.Lys1648fs",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2119,
"cds_start": 4941,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 5085,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4941delG",
"hgvs_p": "p.Lys1648fs",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 1647,
"aa_end": null,
"aa_length": 2119,
"cds_start": 4941,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 5085,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4824delG",
"hgvs_p": "p.Lys1609fs",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 1608,
"aa_end": null,
"aa_length": 2080,
"cds_start": 4824,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 5262,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4824delG",
"hgvs_p": "p.Lys1609fs",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 1608,
"aa_end": null,
"aa_length": 2080,
"cds_start": 4824,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 5262,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4938delG",
"hgvs_p": "p.Lys1647fs",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 1646,
"aa_end": null,
"aa_length": 2118,
"cds_start": 4938,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 5215,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4920delG",
"hgvs_p": "p.Lys1641fs",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 1640,
"aa_end": null,
"aa_length": 2112,
"cds_start": 4920,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5061,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4917delG",
"hgvs_p": "p.Lys1640fs",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 1639,
"aa_end": null,
"aa_length": 2111,
"cds_start": 4917,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 5194,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4890delG",
"hgvs_p": "p.Lys1631fs",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 1630,
"aa_end": null,
"aa_length": 2102,
"cds_start": 4890,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 5031,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4887delG",
"hgvs_p": "p.Lys1630fs",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 1629,
"aa_end": null,
"aa_length": 2101,
"cds_start": 4887,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 5164,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4878delG",
"hgvs_p": "p.Lys1627fs",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 1626,
"aa_end": null,
"aa_length": 2098,
"cds_start": 4878,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 5019,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4875delG",
"hgvs_p": "p.Lys1626fs",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 1625,
"aa_end": null,
"aa_length": 2097,
"cds_start": 4875,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 5152,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4848delG",
"hgvs_p": "p.Lys1617fs",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2088,
"cds_start": 4848,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 4989,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4827delG",
"hgvs_p": "p.Lys1610fs",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
"transcript_support_level": 1,
"aa_start": 1609,
"aa_end": null,
"aa_length": 2081,
"cds_start": 4827,
"cds_end": null,
"cds_length": 6246,
"cdna_start": 4968,
"cdna_end": null,
"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4938delG",
"hgvs_p": "p.Lys1647fs",
"transcript": "NM_001130981.2",
"protein_id": "NP_001124453.1",
"transcript_support_level": null,
"aa_start": 1646,
"aa_end": null,
"aa_length": 2118,
"cds_start": 4938,
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"cdna_start": 5376,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4920delG",
"hgvs_p": "p.Lys1641fs",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 1640,
"aa_end": null,
"aa_length": 2112,
"cds_start": 4920,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 5064,
"cdna_end": null,
"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4917delG",
"hgvs_p": "p.Lys1640fs",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
"transcript_support_level": null,
"aa_start": 1639,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4890delG",
"hgvs_p": "p.Lys1631fs",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 1630,
"aa_end": null,
"aa_length": 2102,
"cds_start": 4890,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 5034,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 45,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4887delG",
"hgvs_p": "p.Lys1630fs",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 1629,
"aa_end": null,
"aa_length": 2101,
"cds_start": 4887,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 5325,
"cdna_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4878delG",
"hgvs_p": "p.Lys1627fs",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
"transcript_support_level": null,
"aa_start": 1626,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "G",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4875delG",
"hgvs_p": "p.Lys1626fs",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
"transcript_support_level": null,
"aa_start": 1625,
"aa_end": null,
"aa_length": 2097,
"cds_start": 4875,
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"cdna_start": 5313,
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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": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4848delG",
"hgvs_p": "p.Lys1617fs",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
"transcript_support_level": null,
"aa_start": 1616,
"aa_end": null,
"aa_length": 2088,
"cds_start": 4848,
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"cdna_start": 4992,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4845delG",
"hgvs_p": "p.Lys1616fs",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
"aa_start": 1615,
"aa_end": null,
"aa_length": 2087,
"cds_start": 4845,
"cds_end": null,
"cds_length": 6264,
"cdna_start": 5283,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "G",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 44,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
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}
],
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"dbsnp": "rs1057516051",
"frequency_reference_population": 0.0000018587591,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000136819,
"gnomad_genomes_af": 0.00000657047,
"gnomad_exomes_ac": 2,
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"gnomad_exomes_homalt": 0,
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"gnomad_mito_homoplasmic": null,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.10000000149011612,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 5.899,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.1,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
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"acmg_score": 18,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 18,
"benign_score": 0,
"pathogenic_score": 18,
"criteria": [
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"PM2",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "ENST00000410020.8",
"gene_symbol": "DYSF",
"hgnc_id": 3097,
"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.4941delG",
"hgvs_p": "p.Lys1648fs"
}
],
"clinvar_disease": "Autosomal recessive limb-girdle muscular dystrophy type 2B,Miyoshi muscular dystrophy 1,Neuromuscular disease caused by qualitative or quantitative defects of dysferlin,Proximal muscle weakness",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:2",
"phenotype_combined": "Proximal muscle weakness|Miyoshi muscular dystrophy 1|Neuromuscular disease caused by qualitative or quantitative defects of dysferlin|Autosomal recessive limb-girdle muscular dystrophy type 2B",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}