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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: 16-89646070-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=89646070&ref=T&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 89646070,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001083314.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "I",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.587A>T",
"hgvs_p": "p.Asn196Ile",
"transcript": "NM_002768.5",
"protein_id": "NP_002759.2",
"transcript_support_level": null,
"aa_start": 196,
"aa_end": null,
"aa_length": 196,
"cds_start": 587,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000397901.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002768.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": true,
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.587A>T",
"hgvs_p": "p.Asn196Ile",
"transcript": "ENST00000397901.8",
"protein_id": "ENSP00000380998.3",
"transcript_support_level": 1,
"aa_start": 196,
"aa_end": null,
"aa_length": 196,
"cds_start": 587,
"cds_end": null,
"cds_length": 591,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002768.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397901.8"
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.1335A>T",
"hgvs_p": null,
"transcript": "ENST00000547687.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000547687.2"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.642A>T",
"hgvs_p": "p.Glu214Asp",
"transcript": "ENST00000675536.1",
"protein_id": "ENSP00000501759.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 265,
"cds_start": 642,
"cds_end": null,
"cds_length": 798,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675536.1"
},
{
"aa_ref": "E",
"aa_alt": "D",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.606A>T",
"hgvs_p": "p.Glu202Asp",
"transcript": "ENST00000535997.7",
"protein_id": "ENSP00000442120.3",
"transcript_support_level": 2,
"aa_start": 202,
"aa_end": null,
"aa_length": 253,
"cds_start": 606,
"cds_end": null,
"cds_length": 762,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000535997.7"
},
{
"aa_ref": "E",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.567A>T",
"hgvs_p": "p.Glu189Asp",
"transcript": "NM_001083314.4",
"protein_id": "NP_001076783.1",
"transcript_support_level": null,
"aa_start": 189,
"aa_end": null,
"aa_length": 240,
"cds_start": 567,
"cds_end": null,
"cds_length": 723,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001083314.4"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.596A>T",
"hgvs_p": "p.Asn199Ile",
"transcript": "ENST00000676355.1",
"protein_id": "ENSP00000502147.1",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 199,
"cds_start": 596,
"cds_end": null,
"cds_length": 600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676355.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.560A>T",
"hgvs_p": "p.Asn187Ile",
"transcript": "ENST00000550102.5",
"protein_id": "ENSP00000449243.1",
"transcript_support_level": 5,
"aa_start": 187,
"aa_end": null,
"aa_length": 187,
"cds_start": 560,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000550102.5"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.539A>T",
"hgvs_p": "p.Asn180Ile",
"transcript": "ENST00000949331.1",
"protein_id": "ENSP00000619390.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 180,
"cds_start": 539,
"cds_end": null,
"cds_length": 543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949331.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.533A>T",
"hgvs_p": "p.Asn178Ile",
"transcript": "ENST00000949332.1",
"protein_id": "ENSP00000619391.1",
"transcript_support_level": null,
"aa_start": 178,
"aa_end": null,
"aa_length": 178,
"cds_start": 533,
"cds_end": null,
"cds_length": 537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949332.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.440A>T",
"hgvs_p": "p.Asn147Ile",
"transcript": "ENST00000675778.1",
"protein_id": "ENSP00000502825.1",
"transcript_support_level": null,
"aa_start": 147,
"aa_end": null,
"aa_length": 147,
"cds_start": 440,
"cds_end": null,
"cds_length": 444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675778.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.395A>T",
"hgvs_p": "p.Asn132Ile",
"transcript": "ENST00000674799.1",
"protein_id": "ENSP00000502267.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 132,
"cds_start": 395,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000674799.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.395A>T",
"hgvs_p": "p.Asn132Ile",
"transcript": "ENST00000675909.1",
"protein_id": "ENSP00000502022.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 132,
"cds_start": 395,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000675909.1"
},
{
"aa_ref": "N",
"aa_alt": "I",
"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": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "c.395A>T",
"hgvs_p": "p.Asn132Ile",
"transcript": "XM_047434195.1",
"protein_id": "XP_047290151.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 132,
"cds_start": 395,
"cds_end": null,
"cds_length": 399,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047434195.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.578A>T",
"hgvs_p": null,
"transcript": "ENST00000549139.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000549139.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*209A>T",
"hgvs_p": null,
"transcript": "ENST00000549328.2",
"protein_id": "ENSP00000447899.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000549328.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.1162A>T",
"hgvs_p": null,
"transcript": "ENST00000551981.6",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000551981.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*1911A>T",
"hgvs_p": null,
"transcript": "ENST00000675016.1",
"protein_id": "ENSP00000502282.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675016.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.583A>T",
"hgvs_p": null,
"transcript": "ENST00000675076.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000675076.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*209A>T",
"hgvs_p": null,
"transcript": "ENST00000675161.1",
"protein_id": "ENSP00000501615.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675161.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.*460A>T",
"hgvs_p": null,
"transcript": "ENST00000675309.1",
"protein_id": "ENSP00000502291.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000675309.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CHMP1A",
"gene_hgnc_id": 8740,
"hgvs_c": "n.856A>T",
"hgvs_p": null,
"transcript": "ENST00000675952.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000675952.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
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"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
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"gnomad_exomes_homalt": null,
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"computational_prediction_selected": "Uncertain_significance",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"bayesdelnoaf_score": -0.01,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_by_gene": [
{
"score": 2,
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"criteria": [
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"verdict": "Uncertain_significance",
"transcript": "NM_001083314.4",
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"effects": [
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"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}