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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: 1-52897459-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=52897459&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 52897459,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001198961.2",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Ile260Thr",
"transcript": "NM_001198961.2",
"protein_id": "NP_001185890.1",
"transcript_support_level": null,
"aa_start": 260,
"aa_end": null,
"aa_length": 292,
"cds_start": 779,
"cds_end": null,
"cds_length": 879,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": "ENST00000371522.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Ile260Thr",
"transcript": "ENST00000371522.9",
"protein_id": "ENSP00000360577.4",
"transcript_support_level": 1,
"aa_start": 260,
"aa_end": null,
"aa_length": 292,
"cds_start": 779,
"cds_end": null,
"cds_length": 879,
"cdna_start": 846,
"cdna_end": null,
"cdna_length": 1556,
"mane_select": "NM_001198961.2",
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*990T>C",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"transcript_support_level": 1,
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*990T>C",
"hgvs_p": null,
"transcript": "ENST00000371520.5",
"protein_id": "ENSP00000360575.1",
"transcript_support_level": 1,
"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": 1606,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Ile229Thr",
"transcript": "NM_018281.4",
"protein_id": "NP_060751.2",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 261,
"cds_start": 686,
"cds_end": null,
"cds_length": 786,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 1463,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.686T>C",
"hgvs_p": "p.Ile229Thr",
"transcript": "ENST00000358358.9",
"protein_id": "ENSP00000351125.5",
"transcript_support_level": 2,
"aa_start": 229,
"aa_end": null,
"aa_length": 261,
"cds_start": 686,
"cds_end": null,
"cds_length": 786,
"cdna_start": 739,
"cdna_end": null,
"cdna_length": 1126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.635T>C",
"hgvs_p": "p.Ile212Thr",
"transcript": "NM_001198962.1",
"protein_id": "NP_001185891.1",
"transcript_support_level": null,
"aa_start": 212,
"aa_end": null,
"aa_length": 244,
"cds_start": 635,
"cds_end": null,
"cds_length": 735,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.635T>C",
"hgvs_p": "p.Ile212Thr",
"transcript": "ENST00000536120.5",
"protein_id": "ENSP00000439264.2",
"transcript_support_level": 3,
"aa_start": 212,
"aa_end": null,
"aa_length": 244,
"cds_start": 635,
"cds_end": null,
"cds_length": 735,
"cdna_start": 736,
"cdna_end": null,
"cdna_length": 1446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.635T>C",
"hgvs_p": "p.Ile212Thr",
"transcript": "ENST00000467988.2",
"protein_id": "ENSP00000441962.1",
"transcript_support_level": 5,
"aa_start": 212,
"aa_end": null,
"aa_length": 218,
"cds_start": 635,
"cds_end": null,
"cds_length": 657,
"cdna_start": 680,
"cdna_end": null,
"cdna_length": 702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Ile183Thr",
"transcript": "NM_001319958.2",
"protein_id": "NP_001306887.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 215,
"cds_start": 548,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1255,
"cdna_end": null,
"cdna_length": 1965,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Ile214Thr",
"transcript": "XM_047424333.1",
"protein_id": "XP_047280289.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 246,
"cds_start": 641,
"cds_end": null,
"cds_length": 741,
"cdna_start": 8539,
"cdna_end": null,
"cdna_length": 9249,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Ile214Thr",
"transcript": "XM_047424335.1",
"protein_id": "XP_047280291.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 246,
"cds_start": 641,
"cds_end": null,
"cds_length": 741,
"cdna_start": 2489,
"cdna_end": null,
"cdna_length": 3199,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.641T>C",
"hgvs_p": "p.Ile214Thr",
"transcript": "XM_047424344.1",
"protein_id": "XP_047280300.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 246,
"cds_start": 641,
"cds_end": null,
"cds_length": 741,
"cdna_start": 1348,
"cdna_end": null,
"cdna_length": 2058,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.629T>C",
"hgvs_p": "p.Ile210Thr",
"transcript": "XM_024448161.2",
"protein_id": "XP_024303929.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 242,
"cds_start": 629,
"cds_end": null,
"cds_length": 729,
"cdna_start": 696,
"cdna_end": null,
"cdna_length": 1406,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Ile183Thr",
"transcript": "XM_047424373.1",
"protein_id": "XP_047280329.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 215,
"cds_start": 548,
"cds_end": null,
"cds_length": 648,
"cdna_start": 8446,
"cdna_end": null,
"cdna_length": 9156,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.548T>C",
"hgvs_p": "p.Ile183Thr",
"transcript": "XM_047424374.1",
"protein_id": "XP_047280330.1",
"transcript_support_level": null,
"aa_start": 183,
"aa_end": null,
"aa_length": 215,
"cds_start": 548,
"cds_end": null,
"cds_length": 648,
"cdna_start": 1054,
"cdna_end": null,
"cdna_length": 1764,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"transcript": "XM_047424375.1",
"protein_id": "XP_047280331.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 196,
"cds_start": 491,
"cds_end": null,
"cds_length": 591,
"cdna_start": 8389,
"cdna_end": null,
"cdna_length": 9099,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.491T>C",
"hgvs_p": "p.Ile164Thr",
"transcript": "XM_047424376.1",
"protein_id": "XP_047280332.1",
"transcript_support_level": null,
"aa_start": 164,
"aa_end": null,
"aa_length": 196,
"cds_start": 491,
"cds_end": null,
"cds_length": 591,
"cdna_start": 1198,
"cdna_end": null,
"cdna_length": 1908,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "H",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "c.804T>C",
"hgvs_p": "p.His268His",
"transcript": "XM_024448159.2",
"protein_id": "XP_024303927.1",
"transcript_support_level": null,
"aa_start": 268,
"aa_end": null,
"aa_length": 268,
"cds_start": 804,
"cds_end": null,
"cds_length": 807,
"cdna_start": 871,
"cdna_end": null,
"cdna_length": 1581,
"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": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.275T>C",
"hgvs_p": null,
"transcript": "ENST00000463923.5",
"protein_id": null,
"transcript_support_level": 3,
"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": 663,
"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": 12,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.*995T>C",
"hgvs_p": null,
"transcript": "ENST00000476477.6",
"protein_id": "ENSP00000446190.1",
"transcript_support_level": 2,
"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": 1676,
"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": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.1968T>C",
"hgvs_p": null,
"transcript": "ENST00000479183.6",
"protein_id": null,
"transcript_support_level": 2,
"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": 2356,
"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": 9,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ECHDC2",
"gene_hgnc_id": 23408,
"hgvs_c": "n.694T>C",
"hgvs_p": null,
"transcript": "ENST00000479593.5",
"protein_id": null,
"transcript_support_level": 5,
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}
],
"gene_symbol": "ECHDC2",
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"dbsnp": "rs1199969271",
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"hom_count_reference_population": 0,
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"gnomad_genomes_ac": 2,
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"gnomad_genomes_homalt": 0,
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"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7719501256942749,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.743,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.5752,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 8.188,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001198961.2",
"gene_symbol": "ECHDC2",
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"effects": [
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],
"inheritance_mode": "AR",
"hgvs_c": "c.779T>C",
"hgvs_p": "p.Ile260Thr"
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}