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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: 6-112253960-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=112253960&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 112253960,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001105206.3",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "NM_001105206.3",
"protein_id": "NP_001098676.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1823,
"cds_start": 191,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000230538.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105206.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000230538.12",
"protein_id": "ENSP00000230538.7",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 1823,
"cds_start": 191,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001105206.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000230538.12"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000389463.9",
"protein_id": "ENSP00000374114.4",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 1816,
"cds_start": 191,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000389463.9"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000522006.5",
"protein_id": "ENSP00000429488.1",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 1816,
"cds_start": 191,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522006.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000431543.6",
"protein_id": "ENSP00000412136.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 129,
"cds_start": 191,
"cds_end": null,
"cds_length": 390,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000431543.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000453937.2",
"protein_id": "ENSP00000398226.2",
"transcript_support_level": 1,
"aa_start": 64,
"aa_end": null,
"aa_length": 120,
"cds_start": 191,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000453937.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "ENSG00000281613",
"gene_hgnc_id": null,
"hgvs_c": "c.-398+17044G>A",
"hgvs_p": null,
"transcript": "ENST00000587816.2",
"protein_id": "ENSP00000487146.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 127,
"cds_start": null,
"cds_end": null,
"cds_length": 386,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000587816.2"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000905056.1",
"protein_id": "ENSP00000575115.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1827,
"cds_start": 191,
"cds_end": null,
"cds_length": 5484,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905056.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000905055.1",
"protein_id": "ENSP00000575114.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1823,
"cds_start": 191,
"cds_end": null,
"cds_length": 5472,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905055.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "NM_001105207.3",
"protein_id": "NP_001098677.2",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1816,
"cds_start": 191,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105207.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "NM_002290.5",
"protein_id": "NP_002281.3",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1816,
"cds_start": 191,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002290.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000424408.6",
"protein_id": "ENSP00000416470.2",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 1816,
"cds_start": 191,
"cds_end": null,
"cds_length": 5451,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424408.6"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000905054.1",
"protein_id": "ENSP00000575113.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1810,
"cds_start": 191,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905054.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000905057.1",
"protein_id": "ENSP00000575116.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1810,
"cds_start": 191,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905057.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000905058.1",
"protein_id": "ENSP00000575117.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1810,
"cds_start": 191,
"cds_end": null,
"cds_length": 5433,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905058.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000951659.1",
"protein_id": "ENSP00000621718.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1790,
"cds_start": 191,
"cds_end": null,
"cds_length": 5373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951659.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000905059.1",
"protein_id": "ENSP00000575118.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 1756,
"cds_start": 191,
"cds_end": null,
"cds_length": 5271,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905059.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000951658.1",
"protein_id": "ENSP00000621717.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 571,
"cds_start": 191,
"cds_end": null,
"cds_length": 1716,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000951658.1"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000521398.5",
"protein_id": "ENSP00000430336.1",
"transcript_support_level": 5,
"aa_start": 64,
"aa_end": null,
"aa_length": 330,
"cds_start": 191,
"cds_end": null,
"cds_length": 995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000521398.5"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "NM_001105208.3",
"protein_id": "NP_001098678.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 120,
"cds_start": 191,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105208.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "NM_001105209.3",
"protein_id": "NP_001098679.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 120,
"cds_start": 191,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001105209.3"
},
{
"aa_ref": "A",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "LAMA4",
"gene_hgnc_id": 6484,
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val",
"transcript": "ENST00000368638.5",
"protein_id": "ENSP00000357627.4",
"transcript_support_level": 2,
"aa_start": 64,
"aa_end": null,
"aa_length": 120,
"cds_start": 191,
"cds_end": null,
"cds_length": 363,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000368638.5"
},
{
"aa_ref": "A",
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"acmg_score": -7,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Moderate,BP6,BS2",
"acmg_by_gene": [
{
"score": -7,
"benign_score": 7,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6",
"BS2"
],
"verdict": "Benign",
"transcript": "NM_001105206.3",
"gene_symbol": "LAMA4",
"hgnc_id": 6484,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.191C>T",
"hgvs_p": "p.Ala64Val"
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000587816.2",
"gene_symbol": "ENSG00000281613",
"hgnc_id": null,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.-398+17044G>A",
"hgvs_p": null
},
{
"score": -3,
"benign_score": 3,
"pathogenic_score": 0,
"criteria": [
"BP4_Moderate",
"BP6"
],
"verdict": "Likely_benign",
"transcript": "ENST00000433684.6",
"gene_symbol": "LAMA4-AS1",
"hgnc_id": 40333,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.684+17044G>A",
"hgvs_p": null
}
],
"clinvar_disease": "Cardiovascular phenotype,Dilated cardiomyopathy 1JJ",
"clinvar_classification": "Conflicting classifications of pathogenicity",
"clinvar_review_status": "criteria provided, conflicting classifications",
"clinvar_submissions_summary": "US:2 LB:1",
"phenotype_combined": "Dilated cardiomyopathy 1JJ|Cardiovascular phenotype",
"pathogenicity_classification_combined": "Conflicting classifications of pathogenicity",
"custom_annotations": null
}
],
"message": null
}