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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: 1-201490237-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=201490237&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 201490237,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_004078.3",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "NM_004078.3",
"protein_id": "NP_004069.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000340006.7",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_004078.3"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000340006.7",
"protein_id": "ENSP00000345079.2",
"transcript_support_level": 1,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_004078.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000340006.7"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.218G>A",
"hgvs_p": null,
"transcript": "ENST00000532313.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000532313.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "n.2263G>A",
"hgvs_p": null,
"transcript": "ENST00000533402.5",
"protein_id": null,
"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": "retained_intron",
"feature": "ENST00000533402.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "NM_001193571.2",
"protein_id": "NP_001180500.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193571.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "NM_001193572.2",
"protein_id": "NP_001180501.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193572.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000367306.5",
"protein_id": "ENSP00000356275.1",
"transcript_support_level": 5,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000367306.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000532460.5",
"protein_id": "ENSP00000434147.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000532460.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000533432.5",
"protein_id": "ENSP00000436792.1",
"transcript_support_level": 2,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533432.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905417.1",
"protein_id": "ENSP00000575476.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905417.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905419.1",
"protein_id": "ENSP00000575478.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905419.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905420.1",
"protein_id": "ENSP00000575479.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905420.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905421.1",
"protein_id": "ENSP00000575480.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905421.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905423.1",
"protein_id": "ENSP00000575482.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905423.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905424.1",
"protein_id": "ENSP00000575483.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905424.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905425.1",
"protein_id": "ENSP00000575484.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905425.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905426.1",
"protein_id": "ENSP00000575485.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905426.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000915182.1",
"protein_id": "ENSP00000585241.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 193,
"cds_start": 220,
"cds_end": null,
"cds_length": 582,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000915182.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000967210.1",
"protein_id": "ENSP00000637269.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 189,
"cds_start": 220,
"cds_end": null,
"cds_length": 570,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967210.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "NM_001193570.2",
"protein_id": "NP_001180499.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 187,
"cds_start": 220,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001193570.2"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.220G>A",
"hgvs_p": "p.Gly74Arg",
"transcript": "ENST00000905418.1",
"protein_id": "ENSP00000575477.1",
"transcript_support_level": null,
"aa_start": 74,
"aa_end": null,
"aa_length": 187,
"cds_start": 220,
"cds_end": null,
"cds_length": 564,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000905418.1"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CSRP1",
"gene_hgnc_id": 2469,
"hgvs_c": "c.121G>A",
"hgvs_p": "p.Gly41Arg",
"transcript": "ENST00000526723.5",
"protein_id": "ENSP00000436491.1",
"transcript_support_level": 3,
"aa_start": 41,
"aa_end": null,
"aa_length": 160,
"cds_start": 121,
"cds_end": null,
"cds_length": 483,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526723.5"
},
{
"aa_ref": "G",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
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],
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"computational_prediction_selected": "Pathogenic",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Pathogenic",
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"bayesdelnoaf_score": 0.43,
"bayesdelnoaf_prediction": "Pathogenic",
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"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"mitotip_prediction": null,
"acmg_score": 4,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3_Moderate",
"acmg_by_gene": [
{
"score": 4,
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"pathogenic_score": 4,
"criteria": [
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"PP3_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_004078.3",
"gene_symbol": "CSRP1",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "not specified",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "not specified",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}