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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: 16-80997367-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=80997367&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 80997367,
"ref": "G",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_020188.5",
"consequences": [
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "NM_020188.5",
"protein_id": "NP_064573.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 10072,
"mane_select": "ENST00000219400.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000219400.8",
"protein_id": "ENSP00000219400.3",
"transcript_support_level": 1,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 215,
"cdna_end": null,
"cdna_length": 10072,
"mane_select": "NM_020188.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000286221",
"gene_hgnc_id": null,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000650780.1",
"protein_id": "ENSP00000498782.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 33,
"cds_start": 28,
"cds_end": null,
"cds_length": 102,
"cdna_start": 216,
"cdna_end": null,
"cdna_length": 1235,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "n.1583C>G",
"hgvs_p": null,
"transcript": "ENST00000563779.5",
"protein_id": null,
"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": 2087,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000570195.5",
"protein_id": "ENSP00000457106.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 93,
"cds_start": 28,
"cds_end": null,
"cds_length": 282,
"cdna_start": 201,
"cdna_end": null,
"cdna_length": 871,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000630396.1",
"protein_id": "ENSP00000487053.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 93,
"cds_start": 28,
"cds_end": null,
"cds_length": 282,
"cdna_start": 227,
"cdna_end": null,
"cdna_length": 481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "NM_001351967.2",
"protein_id": "NP_001338896.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 302,
"cdna_end": null,
"cdna_length": 10159,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "NM_001351968.2",
"protein_id": "NP_001338897.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 285,
"cdna_end": null,
"cdna_length": 10142,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "NM_001351970.2",
"protein_id": "NP_001338899.1",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 10139,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "NM_001351973.4",
"protein_id": "NP_001338902.2",
"transcript_support_level": null,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 310,
"cdna_end": null,
"cdna_length": 10167,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000564249.5",
"protein_id": "ENSP00000456841.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 438,
"cdna_end": null,
"cdna_length": 890,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000565650.5",
"protein_id": "ENSP00000455457.2",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 294,
"cdna_end": null,
"cdna_length": 671,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000565914.5",
"protein_id": "ENSP00000455723.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 79,
"cds_start": 28,
"cds_end": null,
"cds_length": 240,
"cdna_start": 226,
"cdna_end": null,
"cdna_length": 528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000562713.3",
"protein_id": "ENSP00000457938.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
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"cds_start": 28,
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"cdna_start": 275,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
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"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000565925.5",
"protein_id": "ENSP00000454396.1",
"transcript_support_level": 5,
"aa_start": 10,
"aa_end": null,
"aa_length": 74,
"cds_start": 28,
"cds_end": null,
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"cdna_start": 275,
"cdna_end": null,
"cdna_length": 640,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000564174.5",
"protein_id": "ENSP00000455404.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
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"cds_start": 28,
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"cdna_start": 251,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "H",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000565108.5",
"protein_id": "ENSP00000454240.1",
"transcript_support_level": 2,
"aa_start": 10,
"aa_end": null,
"aa_length": 55,
"cds_start": 28,
"cds_end": null,
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"cdna_start": 216,
"cdna_end": null,
"cdna_length": 399,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "H",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "c.28C>G",
"hgvs_p": "p.His10Asp",
"transcript": "ENST00000486645.5",
"protein_id": "ENSP00000456177.1",
"transcript_support_level": 3,
"aa_start": 10,
"aa_end": null,
"aa_length": 50,
"cds_start": 28,
"cds_end": null,
"cds_length": 153,
"cdna_start": 225,
"cdna_end": null,
"cdna_length": 766,
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "n.4C>G",
"hgvs_p": null,
"transcript": "ENST00000561614.5",
"protein_id": "ENSP00000455880.1",
"transcript_support_level": 3,
"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
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "n.222C>G",
"hgvs_p": null,
"transcript": "ENST00000562828.5",
"protein_id": null,
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"aa_start": null,
"aa_end": 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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "n.28C>G",
"hgvs_p": null,
"transcript": "ENST00000565613.5",
"protein_id": "ENSP00000454938.1",
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"aa_start": null,
"aa_end": null,
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"cdna_start": 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": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "n.229C>G",
"hgvs_p": null,
"transcript": "ENST00000566047.5",
"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": 660,
"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": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CMC2",
"gene_hgnc_id": 24447,
"hgvs_c": "n.28C>G",
"hgvs_p": null,
"transcript": "ENST00000567593.5",
"protein_id": "ENSP00000454658.1",
"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,
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"cdna_length": 919,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
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{
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"verdict": "Uncertain_significance",
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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
}