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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: 6-10770188-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=10770188&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 10770188,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001242957.3",
"consequences": [
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1715T>C",
"hgvs_p": "p.Ile572Thr",
"transcript": "NM_001242957.3",
"protein_id": "NP_001229886.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 648,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000354489.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242957.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1715T>C",
"hgvs_p": "p.Ile572Thr",
"transcript": "ENST00000354489.7",
"protein_id": "ENSP00000346484.3",
"transcript_support_level": 5,
"aa_start": 572,
"aa_end": null,
"aa_length": 648,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001242957.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000354489.7"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1640T>C",
"hgvs_p": "p.Ile547Thr",
"transcript": "ENST00000474039.5",
"protein_id": "ENSP00000476067.1",
"transcript_support_level": 1,
"aa_start": 547,
"aa_end": null,
"aa_length": 623,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474039.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1597+5140T>C",
"hgvs_p": null,
"transcript": "ENST00000536370.6",
"protein_id": "ENSP00000442221.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000536370.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000463448.5",
"protein_id": "ENSP00000419208.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000463448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.*371T>C",
"hgvs_p": null,
"transcript": "ENST00000538030.3",
"protein_id": "ENSP00000442250.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000538030.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000463448.5",
"protein_id": "ENSP00000419208.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000463448.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "n.*371T>C",
"hgvs_p": null,
"transcript": "ENST00000538030.3",
"protein_id": "ENSP00000442250.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000538030.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "ENSG00000272162",
"gene_hgnc_id": null,
"hgvs_c": "n.100+20490A>G",
"hgvs_p": null,
"transcript": "ENST00000480294.1",
"protein_id": "ENSP00000417929.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000480294.1"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1640T>C",
"hgvs_p": "p.Ile547Thr",
"transcript": "NM_005906.6",
"protein_id": "NP_005897.1",
"transcript_support_level": null,
"aa_start": 547,
"aa_end": null,
"aa_length": 623,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_005906.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1640T>C",
"hgvs_p": "p.Ile547Thr",
"transcript": "ENST00000313243.6",
"protein_id": "ENSP00000313021.2",
"transcript_support_level": 5,
"aa_start": 547,
"aa_end": null,
"aa_length": 623,
"cds_start": 1640,
"cds_end": null,
"cds_length": 1872,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000313243.6"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1715T>C",
"hgvs_p": "p.Ile572Thr",
"transcript": "XM_011514619.3",
"protein_id": "XP_011512921.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 648,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514619.3"
},
{
"aa_ref": "I",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1715T>C",
"hgvs_p": "p.Ile572Thr",
"transcript": "XM_011514620.3",
"protein_id": "XP_011512922.1",
"transcript_support_level": null,
"aa_start": 572,
"aa_end": null,
"aa_length": 648,
"cds_start": 1715,
"cds_end": null,
"cds_length": 1947,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514620.3"
},
{
"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": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.935T>C",
"hgvs_p": "p.Ile312Thr",
"transcript": "XM_011514624.3",
"protein_id": "XP_011512926.1",
"transcript_support_level": null,
"aa_start": 312,
"aa_end": null,
"aa_length": 388,
"cds_start": 935,
"cds_end": null,
"cds_length": 1167,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514624.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1597+5140T>C",
"hgvs_p": null,
"transcript": "NM_001242385.2",
"protein_id": "NP_001229314.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242385.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1495+5140T>C",
"hgvs_p": null,
"transcript": "NM_001377262.1",
"protein_id": "NP_001364191.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001377262.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": 11,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1495+5140T>C",
"hgvs_p": null,
"transcript": "ENST00000676116.1",
"protein_id": "ENSP00000502045.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 549,
"cds_start": null,
"cds_end": null,
"cds_length": 1650,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000676116.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": 12,
"intron_rank_end": null,
"gene_symbol": "MAK",
"gene_hgnc_id": 6816,
"hgvs_c": "c.1597+5140T>C",
"hgvs_p": null,
"transcript": "XM_011514622.4",
"protein_id": "XP_011512924.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011514622.4"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000460341.5",
"protein_id": "ENSP00000417095.1",
"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": "ENST00000460341.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000463100.5",
"protein_id": "ENSP00000419806.1",
"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": "ENST00000463100.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*90A>G",
"hgvs_p": null,
"transcript": "ENST00000467229.1",
"protein_id": "ENSP00000419731.1",
"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": "ENST00000467229.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TMEM14B",
"gene_hgnc_id": 21384,
"hgvs_c": "n.*104A>G",
"hgvs_p": null,
"transcript": "ENST00000473166.5",
"protein_id": "ENSP00000417416.1",
"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": "ENST00000473166.5"
},
{
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"acmg_classification": "Benign",
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "AR,AD",
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{
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"verdict": "Benign",
"transcript": "ENST00000480294.1",
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"effects": [
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"inheritance_mode": "",
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{
"score": -9,
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"transcript": "ENST00000463448.5",
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],
"clinvar_disease": " Recessive,Retinitis Pigmentosa,Retinitis pigmentosa 62,not provided,not specified",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:1 LB:4 B:2",
"phenotype_combined": "not specified|Retinitis Pigmentosa, Recessive|Retinitis pigmentosa 62|not provided",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}