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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: 1-201490248-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201490248&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 0,
"criteria": [
"PM2",
"PP3_Moderate"
],
"effects": [
"missense_variant"
],
"gene_symbol": "CSRP1",
"hgnc_id": 2469,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"inheritance_mode": "AD",
"pathogenic_score": 4,
"score": 4,
"transcript": "NM_004078.3",
"verdict": "Uncertain_significance"
}
],
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_score": 4,
"allele_count_reference_population": 4,
"alphamissense_prediction": null,
"alphamissense_score": 0.9978,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Pathogenic",
"bayesdelnoaf_score": 0.22,
"chr": "1",
"clinvar_classification": "",
"clinvar_disease": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"computational_prediction_selected": "Pathogenic",
"computational_score_selected": 0.8664172291755676,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 264,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_004078.3",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000340006.7",
"protein_coding": true,
"protein_id": "NP_004069.1",
"strand": false,
"transcript": "NM_004078.3",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 1820,
"cdna_start": 264,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000340006.7",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_004078.3",
"protein_coding": true,
"protein_id": "ENSP00000345079.2",
"strand": false,
"transcript": "ENST00000340006.7",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 5239,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 4,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000532313.5",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "n.207G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000532313.5",
"transcript_support_level": 1
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "retained_intron",
"canonical": false,
"cdna_end": null,
"cdna_length": 8475,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000533402.5",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "n.2252G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000533402.5",
"transcript_support_level": 1
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1982,
"cdna_start": 426,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001193571.2",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180500.1",
"strand": false,
"transcript": "NM_001193571.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1918,
"cdna_start": 362,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001193572.2",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180501.1",
"strand": false,
"transcript": "NM_001193572.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2129,
"cdna_start": 573,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000367306.5",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000356275.1",
"strand": false,
"transcript": "ENST00000367306.5",
"transcript_support_level": 5
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1469,
"cdna_start": 362,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000532460.5",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000434147.1",
"strand": false,
"transcript": "ENST00000532460.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1149,
"cdna_start": 426,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000533432.5",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000436792.1",
"strand": false,
"transcript": "ENST00000533432.5",
"transcript_support_level": 2
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1827,
"cdna_start": 271,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905417.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575476.1",
"strand": false,
"transcript": "ENST00000905417.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1987,
"cdna_start": 431,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905419.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575478.1",
"strand": false,
"transcript": "ENST00000905419.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1868,
"cdna_start": 312,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905420.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575479.1",
"strand": false,
"transcript": "ENST00000905420.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1942,
"cdna_start": 386,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000905421.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575480.1",
"strand": false,
"transcript": "ENST00000905421.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2219,
"cdna_start": 663,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905423.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575482.1",
"strand": false,
"transcript": "ENST00000905423.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1780,
"cdna_start": 394,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905424.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575483.1",
"strand": false,
"transcript": "ENST00000905424.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1784,
"cdna_start": 228,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905425.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575484.1",
"strand": false,
"transcript": "ENST00000905425.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2035,
"cdna_start": 479,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 5,
"exon_rank": 2,
"exon_rank_end": null,
"feature": "ENST00000905426.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575485.1",
"strand": false,
"transcript": "ENST00000905426.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 193,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2194,
"cdna_start": 638,
"cds_end": null,
"cds_length": 582,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 7,
"exon_rank": 4,
"exon_rank_end": null,
"feature": "ENST00000915182.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000585241.1",
"strand": false,
"transcript": "ENST00000915182.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 189,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1804,
"cdna_start": 264,
"cds_end": null,
"cds_length": 570,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000967210.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000637269.1",
"strand": false,
"transcript": "ENST00000967210.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 187,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1802,
"cdna_start": 264,
"cds_end": null,
"cds_length": 564,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "NM_001193570.2",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001180499.1",
"strand": false,
"transcript": "NM_001193570.2",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
"aa_length": 187,
"aa_ref": "G",
"aa_start": 70,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 1803,
"cdna_start": 265,
"cds_end": null,
"cds_length": 564,
"cds_start": 209,
"consequences": [
"missense_variant"
],
"exon_count": 6,
"exon_rank": 3,
"exon_rank_end": null,
"feature": "ENST00000905418.1",
"gene_hgnc_id": 2469,
"gene_symbol": "CSRP1",
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Gly70Asp",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000575477.1",
"strand": false,
"transcript": "ENST00000905418.1",
"transcript_support_level": null
},
{
"aa_alt": "D",
"aa_end": null,
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