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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: 8-125182182-AT-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=125182182&ref=AT&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 125182182,
"ref": "AT",
"alt": "A",
"effect": "frameshift_variant",
"transcript": "NM_173685.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "NM_173685.4",
"protein_id": "NP_775956.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000287437.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_173685.4"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000287437.8",
"protein_id": "ENSP00000287437.3",
"transcript_support_level": 1,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_173685.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000287437.8"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.406delT",
"hgvs_p": "p.Ser136fs",
"transcript": "ENST00000897054.1",
"protein_id": "ENSP00000567113.1",
"transcript_support_level": null,
"aa_start": 136,
"aa_end": null,
"aa_length": 267,
"cds_start": 406,
"cds_end": null,
"cds_length": 804,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897054.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "NM_001349485.2",
"protein_id": "NP_001336414.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349485.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "NM_001349486.2",
"protein_id": "NP_001336415.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001349486.2"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000522563.6",
"protein_id": "ENSP00000430668.1",
"transcript_support_level": 5,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522563.6"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897049.1",
"protein_id": "ENSP00000567108.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897049.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897050.1",
"protein_id": "ENSP00000567109.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897050.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897051.1",
"protein_id": "ENSP00000567110.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897051.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897052.1",
"protein_id": "ENSP00000567111.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897052.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897053.1",
"protein_id": "ENSP00000567112.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897053.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897055.1",
"protein_id": "ENSP00000567114.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897055.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897056.1",
"protein_id": "ENSP00000567115.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897056.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000897057.1",
"protein_id": "ENSP00000567116.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000897057.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000916074.1",
"protein_id": "ENSP00000586133.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916074.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000916075.1",
"protein_id": "ENSP00000586134.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916075.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000916076.1",
"protein_id": "ENSP00000586135.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916076.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000965108.1",
"protein_id": "ENSP00000635167.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965108.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000965109.1",
"protein_id": "ENSP00000635168.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965109.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000965110.1",
"protein_id": "ENSP00000635169.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 247,
"cds_start": 346,
"cds_end": null,
"cds_length": 744,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965110.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000916072.1",
"protein_id": "ENSP00000586131.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 346,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916072.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "NSMCE2",
"gene_hgnc_id": 26513,
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs",
"transcript": "ENST00000916073.1",
"protein_id": "ENSP00000586132.1",
"transcript_support_level": null,
"aa_start": 116,
"aa_end": null,
"aa_length": 246,
"cds_start": 346,
"cds_end": null,
"cds_length": 741,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000916073.1"
},
{
"aa_ref": "S",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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"acmg_score": 16,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PP5_Very_Strong",
"acmg_by_gene": [
{
"score": 16,
"benign_score": 0,
"pathogenic_score": 16,
"criteria": [
"PVS1",
"PP5_Very_Strong"
],
"verdict": "Pathogenic",
"transcript": "NM_173685.4",
"gene_symbol": "NSMCE2",
"hgnc_id": 26513,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.346delT",
"hgvs_p": "p.Ser116fs"
}
],
"clinvar_disease": "Seckel syndrome 10,not provided",
"clinvar_classification": "Pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:3",
"phenotype_combined": "Seckel syndrome 10|not provided",
"pathogenicity_classification_combined": "Pathogenic",
"custom_annotations": null
}
],
"message": null
}