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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: 6-7542041-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=7542041&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 7542041,
"ref": "T",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "ENST00000379802.8",
"consequences": [
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "NM_004415.4",
"protein_id": "NP_004406.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 2871,
"cds_start": 126,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "ENST00000379802.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000379802.8",
"protein_id": "ENSP00000369129.3",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 2871,
"cds_start": 126,
"cds_end": null,
"cds_length": 8616,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 9697,
"mane_select": "NM_004415.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000418664.3",
"protein_id": "ENSP00000396591.2",
"transcript_support_level": 1,
"aa_start": 42,
"aa_end": null,
"aa_length": 2272,
"cds_start": 126,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 716,
"cdna_end": null,
"cdna_length": 8248,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "NM_001319034.2",
"protein_id": "NP_001305963.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 2428,
"cds_start": 126,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 8368,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000710359.2",
"protein_id": "ENSP00000518230.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 2428,
"cds_start": 126,
"cds_end": null,
"cds_length": 7287,
"cdna_start": 704,
"cdna_end": null,
"cdna_length": 8700,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "NM_001008844.3",
"protein_id": "NP_001008844.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 2272,
"cds_start": 126,
"cds_end": null,
"cds_length": 6819,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 7900,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000713909.1",
"protein_id": "ENSP00000519208.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 2106,
"cds_start": 126,
"cds_end": null,
"cds_length": 6321,
"cdna_start": 595,
"cdna_end": null,
"cdna_length": 7486,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "NM_001406591.1",
"protein_id": "NP_001393520.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 479,
"cds_start": 126,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 2067,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000713910.1",
"protein_id": "ENSP00000519209.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 479,
"cds_start": 126,
"cds_end": null,
"cds_length": 1440,
"cdna_start": 544,
"cdna_end": null,
"cdna_length": 2242,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000683682.2",
"protein_id": "ENSP00000508162.2",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 112,
"cds_start": 126,
"cds_end": null,
"cds_length": 339,
"cdna_start": 371,
"cdna_end": null,
"cdna_length": 807,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "Y",
"aa_alt": "Y",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr",
"transcript": "ENST00000713918.1",
"protein_id": "ENSP00000519218.1",
"transcript_support_level": null,
"aa_start": 42,
"aa_end": null,
"aa_length": 111,
"cds_start": 126,
"cds_end": null,
"cds_length": 336,
"cdna_start": 543,
"cdna_end": null,
"cdna_length": 3157,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.18T>C",
"hgvs_p": null,
"transcript": "ENST00000683563.1",
"protein_id": null,
"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": 1910,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000713869.1",
"protein_id": "ENSP00000519174.1",
"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": 9736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000713903.1",
"protein_id": "ENSP00000519202.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000713911.1",
"protein_id": "ENSP00000519210.1",
"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": 4547,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000713912.1",
"protein_id": "ENSP00000519211.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000713913.1",
"protein_id": "ENSP00000519212.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 9633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"hgvs_c": "n.126T>C",
"hgvs_p": null,
"transcript": "ENST00000713924.1",
"protein_id": "ENSP00000519221.1",
"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": 9546,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.32A>G",
"hgvs_p": null,
"transcript": "ENST00000837671.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.348+730A>G",
"hgvs_p": null,
"transcript": "ENST00000690863.3",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.75-988A>G",
"hgvs_p": null,
"transcript": "ENST00000837668.1",
"protein_id": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.183+263A>G",
"hgvs_p": null,
"transcript": "ENST00000837669.1",
"protein_id": null,
"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": 874,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "DSP-AS1",
"gene_hgnc_id": 56039,
"hgvs_c": "n.276+25A>G",
"hgvs_p": null,
"transcript": "ENST00000837670.1",
"protein_id": null,
"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,
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{
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}
],
"gene_symbol": "DSP",
"gene_hgnc_id": 3052,
"dbsnp": "rs36087964",
"frequency_reference_population": 0.056975167,
"hom_count_reference_population": 2758,
"allele_count_reference_population": 89776,
"gnomad_exomes_af": 0.0557958,
"gnomad_genomes_af": 0.068015,
"gnomad_exomes_ac": 79432,
"gnomad_genomes_ac": 10344,
"gnomad_exomes_homalt": 2333,
"gnomad_genomes_homalt": 425,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.7300000190734863,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.73,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.699,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"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": -21,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Very_Strong,BP7,BA1",
"acmg_by_gene": [
{
"score": -21,
"benign_score": 21,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BP7",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000379802.8",
"gene_symbol": "DSP",
"hgnc_id": 3052,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD,AR",
"hgvs_c": "c.126T>C",
"hgvs_p": "p.Tyr42Tyr"
},
{
"score": -20,
"benign_score": 20,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "ENST00000837671.1",
"gene_symbol": "DSP-AS1",
"hgnc_id": 56039,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.32A>G",
"hgvs_p": null
}
],
"clinvar_disease": "Arrhythmogenic cardiomyopathy with wooly hair and keratoderma,Arrhythmogenic right ventricular dysplasia 8,Cardiomyopathy,Cardiovascular phenotype,Lethal acantholytic epidermolysis bullosa,Woolly hair-skin fragility syndrome,not provided,not specified",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:11",
"phenotype_combined": "not specified|Lethal acantholytic epidermolysis bullosa|Woolly hair-skin fragility syndrome|Arrhythmogenic right ventricular dysplasia 8|Cardiovascular phenotype|Cardiomyopathy|Arrhythmogenic cardiomyopathy with wooly hair and keratoderma;Arrhythmogenic right ventricular dysplasia 8|not provided|Arrhythmogenic cardiomyopathy with wooly hair and keratoderma",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}