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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: 16-1962208-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=1962208&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 1962208,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_002952.4",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "NM_002952.4",
"protein_id": "NP_002943.2",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000343262.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002952.4"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000343262.9",
"protein_id": "ENSP00000341885.4",
"transcript_support_level": 1,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002952.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000343262.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.883G>A",
"hgvs_p": null,
"transcript": "ENST00000527109.5",
"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": "ENST00000527109.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.1096G>A",
"hgvs_p": null,
"transcript": "ENST00000527871.5",
"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": "ENST00000527871.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "n.1039G>A",
"hgvs_p": null,
"transcript": "ENST00000533161.5",
"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": "ENST00000533161.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000872227.1",
"protein_id": "ENSP00000542286.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872227.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000872229.1",
"protein_id": "ENSP00000542288.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872229.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000872233.1",
"protein_id": "ENSP00000542292.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872233.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000872234.1",
"protein_id": "ENSP00000542293.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872234.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000929923.1",
"protein_id": "ENSP00000599982.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929923.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.772G>A",
"hgvs_p": "p.Glu258Lys",
"transcript": "ENST00000929925.1",
"protein_id": "ENSP00000599984.1",
"transcript_support_level": null,
"aa_start": 258,
"aa_end": null,
"aa_length": 293,
"cds_start": 772,
"cds_end": null,
"cds_length": 882,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929925.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.748G>A",
"hgvs_p": "p.Glu250Lys",
"transcript": "ENST00000968780.1",
"protein_id": "ENSP00000638839.1",
"transcript_support_level": null,
"aa_start": 250,
"aa_end": null,
"aa_length": 285,
"cds_start": 748,
"cds_end": null,
"cds_length": 858,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968780.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "ENST00000929924.1",
"protein_id": "ENSP00000599983.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 276,
"cds_start": 721,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929924.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.721G>A",
"hgvs_p": "p.Glu241Lys",
"transcript": "ENST00000968781.1",
"protein_id": "ENSP00000638840.1",
"transcript_support_level": null,
"aa_start": 241,
"aa_end": null,
"aa_length": 276,
"cds_start": 721,
"cds_end": null,
"cds_length": 831,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968781.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.715G>A",
"hgvs_p": "p.Glu239Lys",
"transcript": "ENST00000968782.1",
"protein_id": "ENSP00000638841.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 274,
"cds_start": 715,
"cds_end": null,
"cds_length": 825,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968782.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Glu228Lys",
"transcript": "ENST00000872228.1",
"protein_id": "ENSP00000542287.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 263,
"cds_start": 682,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872228.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.682G>A",
"hgvs_p": "p.Glu228Lys",
"transcript": "ENST00000872232.1",
"protein_id": "ENSP00000542291.1",
"transcript_support_level": null,
"aa_start": 228,
"aa_end": null,
"aa_length": 263,
"cds_start": 682,
"cds_end": null,
"cds_length": 792,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872232.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000526522.5",
"protein_id": "ENSP00000436865.1",
"transcript_support_level": 2,
"aa_start": 200,
"aa_end": null,
"aa_length": 235,
"cds_start": 598,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000526522.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.598G>A",
"hgvs_p": "p.Glu200Lys",
"transcript": "ENST00000872231.1",
"protein_id": "ENSP00000542290.1",
"transcript_support_level": null,
"aa_start": 200,
"aa_end": null,
"aa_length": 235,
"cds_start": 598,
"cds_end": null,
"cds_length": 708,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872231.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Glu192Lys",
"transcript": "ENST00000929926.1",
"protein_id": "ENSP00000599985.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 227,
"cds_start": 574,
"cds_end": null,
"cds_length": 684,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929926.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.541G>A",
"hgvs_p": "p.Glu181Lys",
"transcript": "ENST00000872230.1",
"protein_id": "ENSP00000542289.1",
"transcript_support_level": null,
"aa_start": 181,
"aa_end": null,
"aa_length": 216,
"cds_start": 541,
"cds_end": null,
"cds_length": 651,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000872230.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS2",
"gene_hgnc_id": 10404,
"hgvs_c": "c.478G>A",
"hgvs_p": "p.Glu160Lys",
"transcript": "ENST00000533186.5",
"protein_id": "ENSP00000436227.1",
"transcript_support_level": 3,
"aa_start": 160,
"aa_end": null,
"aa_length": 195,
"cds_start": 478,
"cds_end": null,
"cds_length": 588,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000533186.5"
},
{
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{
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],
"verdict": "Uncertain_significance",
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{
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"verdict": "Uncertain_significance",
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},
{
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],
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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
}