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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: 1-25823660-A-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=25823660&ref=A&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 25823660,
"ref": "A",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_019557.6",
"consequences": [
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001099625.2",
"protein_id": "NP_001093095.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000374303.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099625.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000374303.7",
"protein_id": "ENSP00000363421.2",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001099625.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374303.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000374300.7",
"protein_id": "ENSP00000363418.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374300.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000374301.7",
"protein_id": "ENSP00000363419.3",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000374301.7"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000474295.5",
"protein_id": "ENSP00000435461.1",
"transcript_support_level": 1,
"aa_start": 14,
"aa_end": null,
"aa_length": 205,
"cds_start": 41,
"cds_end": null,
"cds_length": 618,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000474295.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255054",
"gene_hgnc_id": null,
"hgvs_c": "n.*118A>C",
"hgvs_p": null,
"transcript": "ENST00000527604.1",
"protein_id": "ENSP00000457066.1",
"transcript_support_level": 5,
"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": "ENST00000527604.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000255054",
"gene_hgnc_id": null,
"hgvs_c": "n.*118A>C",
"hgvs_p": null,
"transcript": "ENST00000527604.1",
"protein_id": "ENSP00000457066.1",
"transcript_support_level": 5,
"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": "ENST00000527604.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859607.1",
"protein_id": "ENSP00000529666.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 298,
"cds_start": 41,
"cds_end": null,
"cds_length": 897,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859607.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_001099626.2",
"protein_id": "NP_001093096.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001099626.2"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "NM_019557.6",
"protein_id": "NP_062457.3",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_019557.6"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859602.1",
"protein_id": "ENSP00000529661.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859602.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859603.1",
"protein_id": "ENSP00000529662.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859603.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859604.1",
"protein_id": "ENSP00000529663.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859604.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859605.1",
"protein_id": "ENSP00000529664.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859605.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859608.1",
"protein_id": "ENSP00000529667.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859608.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859609.1",
"protein_id": "ENSP00000529668.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859609.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859611.1",
"protein_id": "ENSP00000529670.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859611.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859612.1",
"protein_id": "ENSP00000529671.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859612.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000859618.1",
"protein_id": "ENSP00000529677.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000859618.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000931849.1",
"protein_id": "ENSP00000601908.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000931849.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000956474.1",
"protein_id": "ENSP00000626533.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956474.1"
},
{
"aa_ref": "Q",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "MTFR1L",
"gene_hgnc_id": 28836,
"hgvs_c": "c.41A>C",
"hgvs_p": "p.Gln14Pro",
"transcript": "ENST00000956477.1",
"protein_id": "ENSP00000626536.1",
"transcript_support_level": null,
"aa_start": 14,
"aa_end": null,
"aa_length": 292,
"cds_start": 41,
"cds_end": null,
"cds_length": 879,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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},
{
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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
}