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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: 1-155256732-A-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=155256732&ref=A&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 155256732,
"ref": "A",
"alt": "G",
"effect": "missense_variant",
"transcript": "NM_005698.4",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "NM_005698.4",
"protein_id": "NP_005689.2",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 347,
"cds_start": 839,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "ENST00000302631.8",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000302631.8",
"protein_id": "ENSP00000307275.3",
"transcript_support_level": 1,
"aa_start": 280,
"aa_end": null,
"aa_length": 347,
"cds_start": 839,
"cds_end": null,
"cds_length": 1044,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1545,
"mane_select": "NM_005698.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Leu254Pro",
"transcript": "ENST00000355379.3",
"protein_id": "ENSP00000347540.3",
"transcript_support_level": 1,
"aa_start": 254,
"aa_end": null,
"aa_length": 321,
"cds_start": 761,
"cds_end": null,
"cds_length": 966,
"cdna_start": 1040,
"cdna_end": null,
"cdna_length": 1537,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"transcript": "NM_001438464.1",
"protein_id": "NP_001425393.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 333,
"cds_start": 797,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 1006,
"cdna_end": null,
"cdna_length": 1503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.797T>C",
"hgvs_p": "p.Leu266Pro",
"transcript": "ENST00000714216.1",
"protein_id": "ENSP00000519499.1",
"transcript_support_level": null,
"aa_start": 266,
"aa_end": null,
"aa_length": 333,
"cds_start": 797,
"cds_end": null,
"cds_length": 1002,
"cdna_start": 912,
"cdna_end": null,
"cdna_length": 1408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Leu254Pro",
"transcript": "NM_052837.3",
"protein_id": "NP_443069.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 321,
"cds_start": 761,
"cds_end": null,
"cds_length": 966,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1467,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "NM_001438465.1",
"protein_id": "NP_001425394.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 310,
"cds_start": 839,
"cds_end": null,
"cds_length": 933,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1799,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "ENST00000714218.1",
"protein_id": "ENSP00000519501.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 310,
"cds_start": 839,
"cds_end": null,
"cds_length": 933,
"cdna_start": 956,
"cdna_end": null,
"cdna_length": 1706,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.839T>C",
"hgvs_p": "p.Leu280Pro",
"transcript": "NM_001438466.1",
"protein_id": "NP_001425395.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 309,
"cds_start": 839,
"cds_end": null,
"cds_length": 930,
"cdna_start": 1048,
"cdna_end": null,
"cdna_length": 1577,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.719T>C",
"hgvs_p": "p.Leu240Pro",
"transcript": "NM_001438467.1",
"protein_id": "NP_001425396.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 307,
"cds_start": 719,
"cds_end": null,
"cds_length": 924,
"cdna_start": 928,
"cdna_end": null,
"cdna_length": 1425,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.719T>C",
"hgvs_p": "p.Leu240Pro",
"transcript": "ENST00000714220.1",
"protein_id": "ENSP00000519503.1",
"transcript_support_level": null,
"aa_start": 240,
"aa_end": null,
"aa_length": 307,
"cds_start": 719,
"cds_end": null,
"cds_length": 924,
"cdna_start": 834,
"cdna_end": null,
"cdna_length": 1325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.716T>C",
"hgvs_p": "p.Leu239Pro",
"transcript": "NM_001438468.1",
"protein_id": "NP_001425397.1",
"transcript_support_level": null,
"aa_start": 239,
"aa_end": null,
"aa_length": 306,
"cds_start": 716,
"cds_end": null,
"cds_length": 921,
"cdna_start": 925,
"cdna_end": null,
"cdna_length": 1422,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.698T>C",
"hgvs_p": "p.Leu233Pro",
"transcript": "ENST00000714213.1",
"protein_id": "ENSP00000519495.1",
"transcript_support_level": null,
"aa_start": 233,
"aa_end": null,
"aa_length": 300,
"cds_start": 698,
"cds_end": null,
"cds_length": 903,
"cdna_start": 1187,
"cdna_end": null,
"cdna_length": 1685,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Cys276Arg",
"transcript": "NM_001438469.1",
"protein_id": "NP_001425398.1",
"transcript_support_level": null,
"aa_start": 276,
"aa_end": null,
"aa_length": 287,
"cds_start": 826,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1532,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.826T>C",
"hgvs_p": "p.Cys276Arg",
"transcript": "ENST00000472397.6",
"protein_id": "ENSP00000519504.1",
"transcript_support_level": 3,
"aa_start": 276,
"aa_end": null,
"aa_length": 287,
"cds_start": 826,
"cds_end": null,
"cds_length": 864,
"cdna_start": 1035,
"cdna_end": null,
"cdna_length": 1506,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"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": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.761T>C",
"hgvs_p": "p.Leu254Pro",
"transcript": "NM_001438470.1",
"protein_id": "NP_001425399.1",
"transcript_support_level": null,
"aa_start": 254,
"aa_end": null,
"aa_length": 284,
"cds_start": 761,
"cds_end": null,
"cds_length": 855,
"cdna_start": 970,
"cdna_end": null,
"cdna_length": 1721,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.638T>C",
"hgvs_p": "p.Leu213Pro",
"transcript": "NM_001438471.1",
"protein_id": "NP_001425400.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 280,
"cds_start": 638,
"cds_end": null,
"cds_length": 843,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1344,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.638T>C",
"hgvs_p": "p.Leu213Pro",
"transcript": "ENST00000714219.1",
"protein_id": "ENSP00000519502.1",
"transcript_support_level": null,
"aa_start": 213,
"aa_end": null,
"aa_length": 280,
"cds_start": 638,
"cds_end": null,
"cds_length": 843,
"cdna_start": 847,
"cdna_end": null,
"cdna_length": 1343,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.787T>C",
"hgvs_p": "p.Cys263Arg",
"transcript": "NM_001438472.1",
"protein_id": "NP_001425401.1",
"transcript_support_level": null,
"aa_start": 263,
"aa_end": null,
"aa_length": 274,
"cds_start": 787,
"cds_end": null,
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"cdna_start": 996,
"cdna_end": null,
"cdna_length": 1493,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.413T>C",
"hgvs_p": "p.Leu138Pro",
"transcript": "NM_001438473.1",
"protein_id": "NP_001425402.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 205,
"cds_start": 413,
"cds_end": null,
"cds_length": 618,
"cdna_start": 986,
"cdna_end": null,
"cdna_length": 1483,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Cys193Arg",
"transcript": "NM_001438474.1",
"protein_id": "NP_001425403.1",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 204,
"cds_start": 577,
"cds_end": null,
"cds_length": 615,
"cdna_start": 786,
"cdna_end": null,
"cdna_length": 1283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.577T>C",
"hgvs_p": "p.Cys193Arg",
"transcript": "ENST00000478737.6",
"protein_id": "ENSP00000519482.1",
"transcript_support_level": 3,
"aa_start": 193,
"aa_end": null,
"aa_length": 204,
"cds_start": 577,
"cds_end": null,
"cds_length": 615,
"cdna_start": 740,
"cdna_end": null,
"cdna_length": 1239,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "C",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SCAMP3",
"gene_hgnc_id": 10565,
"hgvs_c": "c.499T>C",
"hgvs_p": "p.Cys167Arg",
"transcript": "NM_001438475.1",
"protein_id": "NP_001425404.1",
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.04,
"bayesdelnoaf_prediction": "Uncertain_significance",
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"pathogenic_score": 0,
"criteria": [],
"verdict": "Uncertain_significance",
"transcript": "NM_005698.4",
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"effects": [
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{
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"transcript": "ENST00000791655.1",
"gene_symbol": "ENSG00000303088",
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"effects": [
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],
"inheritance_mode": "",
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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
}