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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: 2-71612663-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=71612663&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 71612663,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000410020.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4244A>C",
"hgvs_p": "p.Tyr1415Ser",
"transcript": "NM_001130987.2",
"protein_id": "NP_001124459.1",
"transcript_support_level": null,
"aa_start": 1415,
"aa_end": null,
"aa_length": 2119,
"cds_start": 4244,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "ENST00000410020.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4244A>C",
"hgvs_p": "p.Tyr1415Ser",
"transcript": "ENST00000410020.8",
"protein_id": "ENSP00000386881.3",
"transcript_support_level": 1,
"aa_start": 1415,
"aa_end": null,
"aa_length": 2119,
"cds_start": 4244,
"cds_end": null,
"cds_length": 6360,
"cdna_start": 4388,
"cdna_end": null,
"cdna_length": 6775,
"mane_select": "NM_001130987.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4190A>C",
"hgvs_p": "p.Tyr1397Ser",
"transcript": "NM_003494.4",
"protein_id": "NP_003485.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 2080,
"cds_start": 4190,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "ENST00000258104.8",
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4190A>C",
"hgvs_p": "p.Tyr1397Ser",
"transcript": "ENST00000258104.8",
"protein_id": "ENSP00000258104.3",
"transcript_support_level": 1,
"aa_start": 1397,
"aa_end": null,
"aa_length": 2080,
"cds_start": 4190,
"cds_end": null,
"cds_length": 6243,
"cdna_start": 4628,
"cdna_end": null,
"cdna_length": 6952,
"mane_select": null,
"mane_plus": "NM_003494.4",
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4241A>C",
"hgvs_p": "p.Tyr1414Ser",
"transcript": "ENST00000409582.7",
"protein_id": "ENSP00000386547.3",
"transcript_support_level": 1,
"aa_start": 1414,
"aa_end": null,
"aa_length": 2118,
"cds_start": 4241,
"cds_end": null,
"cds_length": 6357,
"cdna_start": 4518,
"cdna_end": null,
"cdna_length": 6790,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4286A>C",
"hgvs_p": "p.Tyr1429Ser",
"transcript": "ENST00000409651.5",
"protein_id": "ENSP00000386683.1",
"transcript_support_level": 1,
"aa_start": 1429,
"aa_end": null,
"aa_length": 2112,
"cds_start": 4286,
"cds_end": null,
"cds_length": 6339,
"cdna_start": 4427,
"cdna_end": null,
"cdna_length": 6636,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4283A>C",
"hgvs_p": "p.Tyr1428Ser",
"transcript": "ENST00000413539.6",
"protein_id": "ENSP00000407046.2",
"transcript_support_level": 1,
"aa_start": 1428,
"aa_end": null,
"aa_length": 2111,
"cds_start": 4283,
"cds_end": null,
"cds_length": 6336,
"cdna_start": 4560,
"cdna_end": null,
"cdna_length": 6769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4193A>C",
"hgvs_p": "p.Tyr1398Ser",
"transcript": "ENST00000409366.5",
"protein_id": "ENSP00000386512.1",
"transcript_support_level": 1,
"aa_start": 1398,
"aa_end": null,
"aa_length": 2102,
"cds_start": 4193,
"cds_end": null,
"cds_length": 6309,
"cdna_start": 4334,
"cdna_end": null,
"cdna_length": 6606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4190A>C",
"hgvs_p": "p.Tyr1397Ser",
"transcript": "ENST00000429174.6",
"protein_id": "ENSP00000398305.2",
"transcript_support_level": 1,
"aa_start": 1397,
"aa_end": null,
"aa_length": 2101,
"cds_start": 4190,
"cds_end": null,
"cds_length": 6306,
"cdna_start": 4467,
"cdna_end": null,
"cdna_length": 6739,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4244A>C",
"hgvs_p": "p.Tyr1415Ser",
"transcript": "ENST00000410041.1",
"protein_id": "ENSP00000386617.1",
"transcript_support_level": 1,
"aa_start": 1415,
"aa_end": null,
"aa_length": 2098,
"cds_start": 4244,
"cds_end": null,
"cds_length": 6297,
"cdna_start": 4385,
"cdna_end": null,
"cdna_length": 6594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4241A>C",
"hgvs_p": "p.Tyr1414Ser",
"transcript": "ENST00000409762.5",
"protein_id": "ENSP00000387137.1",
"transcript_support_level": 1,
"aa_start": 1414,
"aa_end": null,
"aa_length": 2097,
"cds_start": 4241,
"cds_end": null,
"cds_length": 6294,
"cdna_start": 4518,
"cdna_end": null,
"cdna_length": 6727,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4151A>C",
"hgvs_p": "p.Tyr1384Ser",
"transcript": "ENST00000409744.5",
"protein_id": "ENSP00000386285.1",
"transcript_support_level": 1,
"aa_start": 1384,
"aa_end": null,
"aa_length": 2088,
"cds_start": 4151,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 4292,
"cdna_end": null,
"cdna_length": 6564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4193A>C",
"hgvs_p": "p.Tyr1398Ser",
"transcript": "ENST00000394120.6",
"protein_id": "ENSP00000377678.2",
"transcript_support_level": 1,
"aa_start": 1398,
"aa_end": null,
"aa_length": 2081,
"cds_start": 4193,
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"cds_length": 6246,
"cdna_start": 4334,
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"cdna_length": 6543,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
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"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4241A>C",
"hgvs_p": "p.Tyr1414Ser",
"transcript": "NM_001130981.2",
"protein_id": "NP_001124453.1",
"transcript_support_level": null,
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"cdna_start": 4679,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4286A>C",
"hgvs_p": "p.Tyr1429Ser",
"transcript": "NM_001130982.2",
"protein_id": "NP_001124454.1",
"transcript_support_level": null,
"aa_start": 1429,
"aa_end": null,
"aa_length": 2112,
"cds_start": 4286,
"cds_end": null,
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"cdna_start": 4430,
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"cdna_length": 6754,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 40,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4283A>C",
"hgvs_p": "p.Tyr1428Ser",
"transcript": "NM_001130979.2",
"protein_id": "NP_001124451.1",
"transcript_support_level": null,
"aa_start": 1428,
"aa_end": null,
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"cdna_start": 4721,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4193A>C",
"hgvs_p": "p.Tyr1398Ser",
"transcript": "NM_001130983.2",
"protein_id": "NP_001124455.1",
"transcript_support_level": null,
"aa_start": 1398,
"aa_end": null,
"aa_length": 2102,
"cds_start": 4193,
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"cdna_start": 4337,
"cdna_end": null,
"cdna_length": 6724,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 56,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4190A>C",
"hgvs_p": "p.Tyr1397Ser",
"transcript": "NM_001130978.2",
"protein_id": "NP_001124450.1",
"transcript_support_level": null,
"aa_start": 1397,
"aa_end": null,
"aa_length": 2101,
"cds_start": 4190,
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"cdna_start": 4628,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4244A>C",
"hgvs_p": "p.Tyr1415Ser",
"transcript": "NM_001130985.2",
"protein_id": "NP_001124457.1",
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"aa_start": 1415,
"aa_end": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4241A>C",
"hgvs_p": "p.Tyr1414Ser",
"transcript": "NM_001130980.2",
"protein_id": "NP_001124452.1",
"transcript_support_level": null,
"aa_start": 1414,
"aa_end": null,
"aa_length": 2097,
"cds_start": 4241,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4151A>C",
"hgvs_p": "p.Tyr1384Ser",
"transcript": "NM_001130984.2",
"protein_id": "NP_001124456.1",
"transcript_support_level": null,
"aa_start": 1384,
"aa_end": null,
"aa_length": 2088,
"cds_start": 4151,
"cds_end": null,
"cds_length": 6267,
"cdna_start": 4295,
"cdna_end": null,
"cdna_length": 6682,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 55,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DYSF",
"gene_hgnc_id": 3097,
"hgvs_c": "c.4148A>C",
"hgvs_p": "p.Tyr1383Ser",
"transcript": "NM_001130977.2",
"protein_id": "NP_001124449.1",
"transcript_support_level": null,
"aa_start": 1383,
"aa_end": null,
"aa_length": 2087,
"cds_start": 4148,
"cds_end": null,
"cds_length": 6264,
"cdna_start": 4586,
"cdna_end": null,
"cdna_length": 6973,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
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}
],
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"splice_prediction_selected": "Benign",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.38,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
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"spliceai_max_prediction": "Benign",
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"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
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],
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}