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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: 7-100881764-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=100881764&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 100881764,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_015908.6",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "NM_015908.6",
"protein_id": "NP_056992.4",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 876,
"cds_start": 357,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000611405.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015908.6"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000611405.5",
"protein_id": "ENSP00000480421.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 876,
"cds_start": 357,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015908.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000611405.5"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000614484.4",
"protein_id": "ENSP00000481173.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 875,
"cds_start": 357,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000614484.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000618262.4",
"protein_id": "ENSP00000478341.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 872,
"cds_start": 357,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618262.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000618411.4",
"protein_id": "ENSP00000483556.1",
"transcript_support_level": 1,
"aa_start": 119,
"aa_end": null,
"aa_length": 871,
"cds_start": 357,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000618411.4"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Asp159Asp",
"transcript": "ENST00000965064.1",
"protein_id": "ENSP00000635123.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 916,
"cds_start": 477,
"cds_end": null,
"cds_length": 2751,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965064.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Asp159Asp",
"transcript": "ENST00000965072.1",
"protein_id": "ENSP00000635131.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 915,
"cds_start": 477,
"cds_end": null,
"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965072.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Asp159Asp",
"transcript": "ENST00000965069.1",
"protein_id": "ENSP00000635128.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 912,
"cds_start": 477,
"cds_end": null,
"cds_length": 2739,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965069.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.477C>T",
"hgvs_p": "p.Asp159Asp",
"transcript": "ENST00000860835.1",
"protein_id": "ENSP00000530894.1",
"transcript_support_level": null,
"aa_start": 159,
"aa_end": null,
"aa_length": 911,
"cds_start": 477,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860835.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.429C>T",
"hgvs_p": "p.Asp143Asp",
"transcript": "ENST00000860837.1",
"protein_id": "ENSP00000530896.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 900,
"cds_start": 429,
"cds_end": null,
"cds_length": 2703,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860837.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.429C>T",
"hgvs_p": "p.Asp143Asp",
"transcript": "ENST00000860834.1",
"protein_id": "ENSP00000530893.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 899,
"cds_start": 429,
"cds_end": null,
"cds_length": 2700,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860834.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.429C>T",
"hgvs_p": "p.Asp143Asp",
"transcript": "ENST00000965067.1",
"protein_id": "ENSP00000635126.1",
"transcript_support_level": null,
"aa_start": 143,
"aa_end": null,
"aa_length": 896,
"cds_start": 429,
"cds_end": null,
"cds_length": 2691,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965067.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000965065.1",
"protein_id": "ENSP00000635124.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 876,
"cds_start": 357,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965065.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000965074.1",
"protein_id": "ENSP00000635133.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 876,
"cds_start": 357,
"cds_end": null,
"cds_length": 2631,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965074.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "NM_001128852.2",
"protein_id": "NP_001122324.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 875,
"cds_start": 357,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128852.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000860839.1",
"protein_id": "ENSP00000530898.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 875,
"cds_start": 357,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000860839.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000935246.1",
"protein_id": "ENSP00000605305.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 875,
"cds_start": 357,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935246.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000965068.1",
"protein_id": "ENSP00000635127.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 875,
"cds_start": 357,
"cds_end": null,
"cds_length": 2628,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965068.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "NM_001128853.2",
"protein_id": "NP_001122325.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 872,
"cds_start": 357,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128853.2"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000935251.1",
"protein_id": "ENSP00000605310.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 872,
"cds_start": 357,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935251.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "ENST00000965071.1",
"protein_id": "ENSP00000635130.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 872,
"cds_start": 357,
"cds_end": null,
"cds_length": 2619,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000965071.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SRRT",
"gene_hgnc_id": 24101,
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp",
"transcript": "NM_001128854.2",
"protein_id": "NP_001122326.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 871,
"cds_start": 357,
"cds_end": null,
"cds_length": 2616,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001128854.2"
},
{
"aa_ref": "D",
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"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -11,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BP6_Moderate,BP7,BS2",
"acmg_by_gene": [
{
"score": -11,
"benign_score": 11,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BP6_Moderate",
"BP7",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_015908.6",
"gene_symbol": "SRRT",
"hgnc_id": 24101,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.357C>T",
"hgvs_p": "p.Asp119Asp"
}
],
"clinvar_disease": "not provided",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}