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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: 16-2264194-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=2264194&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 2264194,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_006711.5",
"consequences": [
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "NM_080594.4",
"protein_id": "NP_542161.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000320225.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_080594.4"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000320225.10",
"protein_id": "ENSP00000315859.5",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_080594.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000320225.10"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000301730.12",
"protein_id": "ENSP00000301730.8",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301730.12"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000397086.6",
"protein_id": "ENSP00000380275.2",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000397086.6"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000565678.5",
"protein_id": "ENSP00000457723.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565678.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000565870.5",
"protein_id": "ENSP00000457110.1",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 301,
"cds_start": 209,
"cds_end": null,
"cds_length": 907,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565870.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000566458.5",
"protein_id": "ENSP00000456352.1",
"transcript_support_level": 1,
"aa_start": 47,
"aa_end": null,
"aa_length": 282,
"cds_start": 140,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566458.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.-323G>A",
"hgvs_p": null,
"transcript": "ENST00000561718.5",
"protein_id": "ENSP00000455306.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561718.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_premature_start_codon_gain_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.-323G>A",
"hgvs_p": null,
"transcript": "ENST00000566397.5",
"protein_id": "ENSP00000455379.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 128,
"cds_start": null,
"cds_end": null,
"cds_length": 387,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566397.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "NM_001286625.1",
"protein_id": "NP_001273554.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286625.1"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "NM_006711.5",
"protein_id": "NP_006702.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006711.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000568631.5",
"protein_id": "ENSP00000457820.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 305,
"cds_start": 209,
"cds_end": null,
"cds_length": 918,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000568631.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000561518.5",
"protein_id": "ENSP00000454461.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 283,
"cds_start": 209,
"cds_end": null,
"cds_length": 853,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000561518.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "NM_001286626.2",
"protein_id": "NP_001273555.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 282,
"cds_start": 140,
"cds_end": null,
"cds_length": 849,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286626.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "NM_001286627.2",
"protein_id": "NP_001273556.1",
"transcript_support_level": null,
"aa_start": 47,
"aa_end": null,
"aa_length": 257,
"cds_start": 140,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001286627.2"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.140G>A",
"hgvs_p": "p.Ser47Asn",
"transcript": "ENST00000567147.5",
"protein_id": "ENSP00000454513.1",
"transcript_support_level": 3,
"aa_start": 47,
"aa_end": null,
"aa_length": 257,
"cds_start": 140,
"cds_end": null,
"cds_length": 774,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000567147.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000564601.5",
"protein_id": "ENSP00000457690.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 168,
"cds_start": 209,
"cds_end": null,
"cds_length": 508,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564601.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000564764.5",
"protein_id": "ENSP00000457378.1",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 149,
"cds_start": 209,
"cds_end": null,
"cds_length": 450,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000564764.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000566180.5",
"protein_id": "ENSP00000457618.1",
"transcript_support_level": 5,
"aa_start": 70,
"aa_end": null,
"aa_length": 138,
"cds_start": 209,
"cds_end": null,
"cds_length": 419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000566180.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000562690.5",
"protein_id": "ENSP00000457296.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 126,
"cds_start": 209,
"cds_end": null,
"cds_length": 381,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000562690.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000569709.5",
"protein_id": "ENSP00000455195.1",
"transcript_support_level": 4,
"aa_start": 70,
"aa_end": null,
"aa_length": 97,
"cds_start": 209,
"cds_end": null,
"cds_length": 294,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000569709.5"
},
{
"aa_ref": "S",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RNPS1",
"gene_hgnc_id": 10080,
"hgvs_c": "c.209G>A",
"hgvs_p": "p.Ser70Asn",
"transcript": "ENST00000565333.5",
"protein_id": "ENSP00000454867.1",
"transcript_support_level": 4,
"aa_start": 70,
"aa_end": null,
"aa_length": 84,
"cds_start": 209,
"cds_end": null,
"cds_length": 255,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000565333.5"
},
{
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{
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],
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"computational_prediction_selected": "Benign",
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"splice_prediction_selected": "Uncertain_significance",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.46,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Uncertain_significance",
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"apogee2_prediction": null,
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"acmg_score": -4,
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [
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],
"verdict": "Likely_benign",
"transcript": "NM_006711.5",
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"effects": [
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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
}