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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: 7-157416065-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=157416065&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 157416065,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "NM_058246.4",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "NM_058246.4",
"protein_id": "NP_490647.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262177.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_058246.4"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000262177.9",
"protein_id": "ENSP00000262177.4",
"transcript_support_level": 1,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_058246.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262177.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.*5471G>A",
"hgvs_p": null,
"transcript": "ENST00000459889.5",
"protein_id": "ENSP00000488263.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000459889.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "n.*5471G>A",
"hgvs_p": null,
"transcript": "ENST00000459889.5",
"protein_id": "ENSP00000488263.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000459889.5"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.1038G>A",
"hgvs_p": "p.Ser346Ser",
"transcript": "ENST00000867739.1",
"protein_id": "ENSP00000537798.1",
"transcript_support_level": null,
"aa_start": 346,
"aa_end": null,
"aa_length": 356,
"cds_start": 1038,
"cds_end": null,
"cds_length": 1071,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867739.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.984G>A",
"hgvs_p": "p.Ser328Ser",
"transcript": "ENST00000956621.1",
"protein_id": "ENSP00000626680.1",
"transcript_support_level": null,
"aa_start": 328,
"aa_end": null,
"aa_length": 338,
"cds_start": 984,
"cds_end": null,
"cds_length": 1017,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956621.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000867735.1",
"protein_id": "ENSP00000537794.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867735.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000867741.1",
"protein_id": "ENSP00000537800.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867741.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000867742.1",
"protein_id": "ENSP00000537801.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867742.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000911733.1",
"protein_id": "ENSP00000581792.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911733.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000911737.1",
"protein_id": "ENSP00000581796.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911737.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000911739.1",
"protein_id": "ENSP00000581798.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000911739.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956617.1",
"protein_id": "ENSP00000626676.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956617.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956620.1",
"protein_id": "ENSP00000626679.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956620.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956628.1",
"protein_id": "ENSP00000626687.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956628.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956629.1",
"protein_id": "ENSP00000626688.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956629.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956630.1",
"protein_id": "ENSP00000626689.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956630.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956631.1",
"protein_id": "ENSP00000626690.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956631.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser",
"transcript": "ENST00000956632.1",
"protein_id": "ENSP00000626691.1",
"transcript_support_level": null,
"aa_start": 316,
"aa_end": null,
"aa_length": 326,
"cds_start": 948,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956632.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Ser315Ser",
"transcript": "ENST00000867734.1",
"protein_id": "ENSP00000537793.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 325,
"cds_start": 945,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867734.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.945G>A",
"hgvs_p": "p.Ser315Ser",
"transcript": "ENST00000956618.1",
"protein_id": "ENSP00000626677.1",
"transcript_support_level": null,
"aa_start": 315,
"aa_end": null,
"aa_length": 325,
"cds_start": 945,
"cds_end": null,
"cds_length": 978,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956618.1"
},
{
"aa_ref": "S",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DNAJB6",
"gene_hgnc_id": 14888,
"hgvs_c": "c.888G>A",
"hgvs_p": "p.Ser296Ser",
"transcript": "ENST00000867740.1",
"protein_id": "ENSP00000537799.1",
"transcript_support_level": null,
"aa_start": 296,
"aa_end": null,
"aa_length": 306,
"cds_start": 888,
"cds_end": null,
"cds_length": 921,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
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],
"verdict": "Benign",
"transcript": "NM_058246.4",
"gene_symbol": "DNAJB6",
"hgnc_id": 14888,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.948G>A",
"hgvs_p": "p.Ser316Ser"
}
],
"clinvar_disease": " Dominant,Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6),Limb-Girdle Muscular Dystrophy,not specified",
"clinvar_classification": "Benign/Likely benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "LB:2 B:2",
"phenotype_combined": "not specified|Limb-Girdle Muscular Dystrophy, Dominant|Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
"pathogenicity_classification_combined": "Benign/Likely benign",
"custom_annotations": null
}
],
"message": null
}