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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: 1-19219385-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=19219385&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 19219385,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_001375820.1",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2900G>C",
"hgvs_p": "p.Ser967Thr",
"transcript": "NM_015047.3",
"protein_id": "NP_055862.1",
"transcript_support_level": null,
"aa_start": 967,
"aa_end": null,
"aa_length": 993,
"cds_start": 2900,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000477853.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015047.3"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2900G>C",
"hgvs_p": "p.Ser967Thr",
"transcript": "ENST00000477853.6",
"protein_id": "ENSP00000420608.1",
"transcript_support_level": 1,
"aa_start": 967,
"aa_end": null,
"aa_length": 993,
"cds_start": 2900,
"cds_end": null,
"cds_length": 2982,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015047.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000477853.6"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Ser966Thr",
"transcript": "ENST00000375199.7",
"protein_id": "ENSP00000364345.3",
"transcript_support_level": 1,
"aa_start": 966,
"aa_end": null,
"aa_length": 992,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375199.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2975G>C",
"hgvs_p": "p.Ser992Thr",
"transcript": "ENST00000911107.1",
"protein_id": "ENSP00000581166.1",
"transcript_support_level": null,
"aa_start": 992,
"aa_end": null,
"aa_length": 1018,
"cds_start": 2975,
"cds_end": null,
"cds_length": 3057,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911107.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2909G>C",
"hgvs_p": "p.Ser970Thr",
"transcript": "NM_001375820.1",
"protein_id": "NP_001362749.1",
"transcript_support_level": null,
"aa_start": 970,
"aa_end": null,
"aa_length": 996,
"cds_start": 2909,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375820.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2909G>C",
"hgvs_p": "p.Ser970Thr",
"transcript": "ENST00000486405.2",
"protein_id": "ENSP00000419345.2",
"transcript_support_level": 2,
"aa_start": 970,
"aa_end": null,
"aa_length": 996,
"cds_start": 2909,
"cds_end": null,
"cds_length": 2991,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000486405.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2906G>C",
"hgvs_p": "p.Ser969Thr",
"transcript": "NM_001375821.1",
"protein_id": "NP_001362750.1",
"transcript_support_level": null,
"aa_start": 969,
"aa_end": null,
"aa_length": 995,
"cds_start": 2906,
"cds_end": null,
"cds_length": 2988,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001375821.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Ser966Thr",
"transcript": "NM_001271427.2",
"protein_id": "NP_001258356.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 992,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271427.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Ser966Thr",
"transcript": "NM_001271428.2",
"protein_id": "NP_001258357.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 992,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271428.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Ser966Thr",
"transcript": "ENST00000911103.1",
"protein_id": "ENSP00000581162.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 992,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911103.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2897G>C",
"hgvs_p": "p.Ser966Thr",
"transcript": "ENST00000933101.1",
"protein_id": "ENSP00000603160.1",
"transcript_support_level": null,
"aa_start": 966,
"aa_end": null,
"aa_length": 992,
"cds_start": 2897,
"cds_end": null,
"cds_length": 2979,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933101.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2894G>C",
"hgvs_p": "p.Ser965Thr",
"transcript": "ENST00000690823.1",
"protein_id": "ENSP00000509286.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 991,
"cds_start": 2894,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000690823.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2894G>C",
"hgvs_p": "p.Ser965Thr",
"transcript": "ENST00000911104.1",
"protein_id": "ENSP00000581163.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 991,
"cds_start": 2894,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911104.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2894G>C",
"hgvs_p": "p.Ser965Thr",
"transcript": "ENST00000960183.1",
"protein_id": "ENSP00000630242.1",
"transcript_support_level": null,
"aa_start": 965,
"aa_end": null,
"aa_length": 991,
"cds_start": 2894,
"cds_end": null,
"cds_length": 2976,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960183.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2888G>C",
"hgvs_p": "p.Ser963Thr",
"transcript": "ENST00000933103.1",
"protein_id": "ENSP00000603162.1",
"transcript_support_level": null,
"aa_start": 963,
"aa_end": null,
"aa_length": 989,
"cds_start": 2888,
"cds_end": null,
"cds_length": 2970,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933103.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2837G>C",
"hgvs_p": "p.Ser946Thr",
"transcript": "ENST00000960181.1",
"protein_id": "ENSP00000630240.1",
"transcript_support_level": null,
"aa_start": 946,
"aa_end": null,
"aa_length": 972,
"cds_start": 2837,
"cds_end": null,
"cds_length": 2919,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960181.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2834G>C",
"hgvs_p": "p.Ser945Thr",
"transcript": "NM_001271429.2",
"protein_id": "NP_001258358.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 971,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001271429.2"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2834G>C",
"hgvs_p": "p.Ser945Thr",
"transcript": "ENST00000375208.7",
"protein_id": "ENSP00000364354.3",
"transcript_support_level": 2,
"aa_start": 945,
"aa_end": null,
"aa_length": 971,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000375208.7"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2834G>C",
"hgvs_p": "p.Ser945Thr",
"transcript": "ENST00000933105.1",
"protein_id": "ENSP00000603164.1",
"transcript_support_level": null,
"aa_start": 945,
"aa_end": null,
"aa_length": 971,
"cds_start": 2834,
"cds_end": null,
"cds_length": 2916,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933105.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2831G>C",
"hgvs_p": "p.Ser944Thr",
"transcript": "ENST00000960179.1",
"protein_id": "ENSP00000630238.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 970,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960179.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2831G>C",
"hgvs_p": "p.Ser944Thr",
"transcript": "ENST00000960182.1",
"protein_id": "ENSP00000630241.1",
"transcript_support_level": null,
"aa_start": 944,
"aa_end": null,
"aa_length": 970,
"cds_start": 2831,
"cds_end": null,
"cds_length": 2913,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000960182.1"
},
{
"aa_ref": "S",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "EMC1",
"gene_hgnc_id": 28957,
"hgvs_c": "c.2822G>C",
"hgvs_p": "p.Ser941Thr",
"transcript": "ENST00000933106.1",
"protein_id": "ENSP00000603165.1",
"transcript_support_level": null,
"aa_start": 941,
"aa_end": null,
"aa_length": 967,
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"revel_prediction": "Benign",
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{
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"verdict": "Likely_benign",
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"effects": [
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{
"score": 0,
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}