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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: 4-102760765-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=4&pos=102760765&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "4",
"pos": 102760765,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_005908.4",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "NM_005908.4",
"protein_id": "NP_005899.3",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 879,
"cds_start": 130,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000647097.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005908.4"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000647097.2",
"protein_id": "ENSP00000495247.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 879,
"cds_start": 130,
"cds_end": null,
"cds_length": 2640,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_005908.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000647097.2"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000642252.1",
"protein_id": "ENSP00000495483.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 925,
"cds_start": 130,
"cds_end": null,
"cds_length": 2778,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000642252.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000954426.1",
"protein_id": "ENSP00000624485.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 912,
"cds_start": 130,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954426.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000954430.1",
"protein_id": "ENSP00000624489.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 895,
"cds_start": 130,
"cds_end": null,
"cds_length": 2688,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954430.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000644159.1",
"protein_id": "ENSP00000494462.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 886,
"cds_start": 130,
"cds_end": null,
"cds_length": 2661,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000644159.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000954427.1",
"protein_id": "ENSP00000624486.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 878,
"cds_start": 130,
"cds_end": null,
"cds_length": 2637,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954427.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000921431.1",
"protein_id": "ENSP00000591490.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 836,
"cds_start": 130,
"cds_end": null,
"cds_length": 2511,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921431.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000921430.1",
"protein_id": "ENSP00000591489.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 824,
"cds_start": 130,
"cds_end": null,
"cds_length": 2475,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921430.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000505239.1",
"protein_id": "ENSP00000427322.1",
"transcript_support_level": 2,
"aa_start": 44,
"aa_end": null,
"aa_length": 822,
"cds_start": 130,
"cds_end": null,
"cds_length": 2469,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000505239.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000921427.1",
"protein_id": "ENSP00000591486.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 806,
"cds_start": 130,
"cds_end": null,
"cds_length": 2421,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921427.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000954428.1",
"protein_id": "ENSP00000624487.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 801,
"cds_start": 130,
"cds_end": null,
"cds_length": 2406,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954428.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000910543.1",
"protein_id": "ENSP00000580602.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 783,
"cds_start": 130,
"cds_end": null,
"cds_length": 2352,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910543.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000910542.1",
"protein_id": "ENSP00000580601.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 774,
"cds_start": 130,
"cds_end": null,
"cds_length": 2325,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910542.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000921426.1",
"protein_id": "ENSP00000591485.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 755,
"cds_start": 130,
"cds_end": null,
"cds_length": 2268,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921426.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000954429.1",
"protein_id": "ENSP00000624488.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 742,
"cds_start": 130,
"cds_end": null,
"cds_length": 2229,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954429.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000954425.1",
"protein_id": "ENSP00000624484.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 631,
"cds_start": 130,
"cds_end": null,
"cds_length": 1896,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954425.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000921429.1",
"protein_id": "ENSP00000591488.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 618,
"cds_start": 130,
"cds_end": null,
"cds_length": 1857,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921429.1"
},
{
"aa_ref": "V",
"aa_alt": "F",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.130G>T",
"hgvs_p": "p.Val44Phe",
"transcript": "ENST00000921428.1",
"protein_id": "ENSP00000591487.1",
"transcript_support_level": null,
"aa_start": 44,
"aa_end": null,
"aa_length": 569,
"cds_start": 130,
"cds_end": null,
"cds_length": 1710,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000921428.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "c.-3415G>T",
"hgvs_p": null,
"transcript": "XM_047415692.1",
"protein_id": "XP_047271648.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 854,
"cds_start": null,
"cds_end": null,
"cds_length": 2565,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047415692.1"
},
{
"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": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.230G>T",
"hgvs_p": null,
"transcript": "ENST00000507358.1",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000507358.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MANBA",
"gene_hgnc_id": 6831,
"hgvs_c": "n.130G>T",
"hgvs_p": null,
"transcript": "ENST00000511813.1",
"protein_id": "ENSP00000422001.1",
"transcript_support_level": 4,
"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": "ENST00000511813.1"
},
{
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"computational_score_selected": 0.9211282730102539,
"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.31,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Benign",
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"acmg_by_gene": [
{
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"PP3_Moderate"
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"verdict": "Uncertain_significance",
"transcript": "NM_005908.4",
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"effects": [
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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
}