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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: 16-67237751-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=67237751&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 67237751,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001318202.2",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "NM_013241.3",
"protein_id": "NP_037373.2",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1164,
"cds_start": 660,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000258201.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_013241.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000258201.9",
"protein_id": "ENSP00000258201.4",
"transcript_support_level": 1,
"aa_start": 220,
"aa_end": null,
"aa_length": 1164,
"cds_start": 660,
"cds_end": null,
"cds_length": 3495,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_013241.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000258201.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SLC9A5",
"gene_hgnc_id": 11078,
"hgvs_c": "n.69C>G",
"hgvs_p": null,
"transcript": "ENST00000564704.5",
"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": "ENST00000564704.5"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.942G>C",
"hgvs_p": "p.Lys314Asn",
"transcript": "ENST00000932114.1",
"protein_id": "ENSP00000602173.1",
"transcript_support_level": null,
"aa_start": 314,
"aa_end": null,
"aa_length": 1258,
"cds_start": 942,
"cds_end": null,
"cds_length": 3777,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932114.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.930G>C",
"hgvs_p": "p.Lys310Asn",
"transcript": "ENST00000910037.1",
"protein_id": "ENSP00000580096.1",
"transcript_support_level": null,
"aa_start": 310,
"aa_end": null,
"aa_length": 1254,
"cds_start": 930,
"cds_end": null,
"cds_length": 3765,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910037.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.687G>C",
"hgvs_p": "p.Lys229Asn",
"transcript": "ENST00000910044.1",
"protein_id": "ENSP00000580103.1",
"transcript_support_level": null,
"aa_start": 229,
"aa_end": null,
"aa_length": 1199,
"cds_start": 687,
"cds_end": null,
"cds_length": 3600,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910044.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "NM_001318202.2",
"protein_id": "NP_001305131.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1190,
"cds_start": 660,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318202.2"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910041.1",
"protein_id": "ENSP00000580100.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1190,
"cds_start": 660,
"cds_end": null,
"cds_length": 3573,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910041.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910039.1",
"protein_id": "ENSP00000580098.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1182,
"cds_start": 660,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910039.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000966997.1",
"protein_id": "ENSP00000637056.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1178,
"cds_start": 660,
"cds_end": null,
"cds_length": 3537,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966997.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910040.1",
"protein_id": "ENSP00000580099.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1173,
"cds_start": 660,
"cds_end": null,
"cds_length": 3522,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910040.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000932112.1",
"protein_id": "ENSP00000602171.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1163,
"cds_start": 660,
"cds_end": null,
"cds_length": 3492,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932112.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910045.1",
"protein_id": "ENSP00000580104.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1154,
"cds_start": 660,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910045.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910038.1",
"protein_id": "ENSP00000580097.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1152,
"cds_start": 660,
"cds_end": null,
"cds_length": 3459,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910038.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910036.1",
"protein_id": "ENSP00000580095.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1128,
"cds_start": 660,
"cds_end": null,
"cds_length": 3387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910036.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910035.1",
"protein_id": "ENSP00000580094.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1110,
"cds_start": 660,
"cds_end": null,
"cds_length": 3333,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910035.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910042.1",
"protein_id": "ENSP00000580101.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1103,
"cds_start": 660,
"cds_end": null,
"cds_length": 3312,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910042.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000910043.1",
"protein_id": "ENSP00000580102.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1059,
"cds_start": 660,
"cds_end": null,
"cds_length": 3180,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000910043.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000966998.1",
"protein_id": "ENSP00000637057.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1041,
"cds_start": 660,
"cds_end": null,
"cds_length": 3126,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000966998.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.660G>C",
"hgvs_p": "p.Lys220Asn",
"transcript": "ENST00000932113.1",
"protein_id": "ENSP00000602172.1",
"transcript_support_level": null,
"aa_start": 220,
"aa_end": null,
"aa_length": 1029,
"cds_start": 660,
"cds_end": null,
"cds_length": 3090,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000932113.1"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.630G>C",
"hgvs_p": "p.Lys210Asn",
"transcript": "XM_011523043.3",
"protein_id": "XP_011521345.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 1180,
"cds_start": 630,
"cds_end": null,
"cds_length": 3543,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011523043.3"
},
{
"aa_ref": "K",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FHOD1",
"gene_hgnc_id": 17905,
"hgvs_c": "c.630G>C",
"hgvs_p": "p.Lys210Asn",
"transcript": "XM_047433999.1",
"protein_id": "XP_047289955.1",
"transcript_support_level": null,
"aa_start": 210,
"aa_end": null,
"aa_length": 1154,
"cds_start": 630,
"cds_end": null,
"cds_length": 3465,
"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
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],
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"computational_prediction_selected": "Uncertain_significance",
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"splice_prediction_selected": "Benign",
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"alphamissense_prediction": "Pathogenic",
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"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_001318202.2",
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"effects": [
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"inheritance_mode": "",
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{
"score": 0,
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"pathogenic_score": 0,
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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
}