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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: 9-121310819-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=121310819&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 121310819,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000432226.7",
"consequences": [
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"transcript": "NM_198252.3",
"protein_id": "NP_937895.1",
"transcript_support_level": null,
"aa_start": 163,
"aa_end": null,
"aa_length": 731,
"cds_start": 487,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": "ENST00000432226.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.487G>A",
"hgvs_p": "p.Asp163Asn",
"transcript": "ENST00000432226.7",
"protein_id": "ENSP00000404226.2",
"transcript_support_level": 5,
"aa_start": 163,
"aa_end": null,
"aa_length": 731,
"cds_start": 487,
"cds_end": null,
"cds_length": 2196,
"cdna_start": 647,
"cdna_end": null,
"cdna_length": 2595,
"mane_select": "NM_198252.3",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Asp214Asn",
"transcript": "ENST00000373818.8",
"protein_id": "ENSP00000362924.4",
"transcript_support_level": 1,
"aa_start": 214,
"aa_end": null,
"aa_length": 782,
"cds_start": 640,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"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": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "n.2449G>A",
"hgvs_p": null,
"transcript": "ENST00000485767.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 6454,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.640G>A",
"hgvs_p": "p.Asp214Asn",
"transcript": "NM_000177.5",
"protein_id": "NP_000168.1",
"transcript_support_level": null,
"aa_start": 214,
"aa_end": null,
"aa_length": 782,
"cds_start": 640,
"cds_end": null,
"cds_length": 2349,
"cdna_start": 671,
"cdna_end": null,
"cdna_length": 2619,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"transcript": "NM_001127663.2",
"protein_id": "NP_001121135.2",
"transcript_support_level": null,
"aa_start": 199,
"aa_end": null,
"aa_length": 767,
"cds_start": 595,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 759,
"cdna_end": null,
"cdna_length": 2707,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.595G>A",
"hgvs_p": "p.Asp199Asn",
"transcript": "ENST00000449733.7",
"protein_id": "ENSP00000409358.2",
"transcript_support_level": 2,
"aa_start": 199,
"aa_end": null,
"aa_length": 767,
"cds_start": 595,
"cds_end": null,
"cds_length": 2304,
"cdna_start": 753,
"cdna_end": null,
"cdna_length": 2702,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"transcript": "NM_001353076.2",
"protein_id": "NP_001340005.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 755,
"cds_start": 559,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 757,
"cdna_end": null,
"cdna_length": 2705,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.559G>A",
"hgvs_p": "p.Asp187Asn",
"transcript": "ENST00000699558.1",
"protein_id": "ENSP00000514432.1",
"transcript_support_level": null,
"aa_start": 187,
"aa_end": null,
"aa_length": 755,
"cds_start": 559,
"cds_end": null,
"cds_length": 2268,
"cdna_start": 699,
"cdna_end": null,
"cdna_length": 2633,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "NM_001258029.2",
"protein_id": "NP_001244958.1",
"transcript_support_level": null,
"aa_start": 180,
"aa_end": null,
"aa_length": 748,
"cds_start": 538,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 577,
"cdna_end": null,
"cdna_length": 2525,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.538G>A",
"hgvs_p": "p.Asp180Asn",
"transcript": "ENST00000394353.7",
"protein_id": "ENSP00000377882.3",
"transcript_support_level": 2,
"aa_start": 180,
"aa_end": null,
"aa_length": 748,
"cds_start": 538,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 559,
"cdna_end": null,
"cdna_length": 2311,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001127666.2",
"protein_id": "NP_001121138.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 718,
"cdna_end": null,
"cdna_length": 2666,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001127667.2",
"protein_id": "NP_001121139.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 709,
"cdna_end": null,
"cdna_length": 2657,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353063.2",
"protein_id": "NP_001339992.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 616,
"cdna_end": null,
"cdna_length": 2564,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353064.2",
"protein_id": "NP_001339993.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 772,
"cdna_end": null,
"cdna_length": 2720,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353065.2",
"protein_id": "NP_001339994.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 788,
"cdna_end": null,
"cdna_length": 2736,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353066.2",
"protein_id": "NP_001339995.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 931,
"cdna_end": null,
"cdna_length": 2879,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353067.2",
"protein_id": "NP_001339996.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 2573,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353068.2",
"protein_id": "NP_001339997.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353069.2",
"protein_id": "NP_001339998.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 821,
"cdna_end": null,
"cdna_length": 2769,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353070.2",
"protein_id": "NP_001339999.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 703,
"cdna_end": null,
"cdna_length": 2651,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353071.2",
"protein_id": "NP_001340000.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 742,
"cds_start": 520,
"cds_end": null,
"cds_length": 2229,
"cdna_start": 878,
"cdna_end": null,
"cdna_length": 2826,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "D",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GSN",
"gene_hgnc_id": 4620,
"hgvs_c": "c.520G>A",
"hgvs_p": "p.Asp174Asn",
"transcript": "NM_001353072.2",
"protein_id": "NP_001340001.1",
"transcript_support_level": null,
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:9 LP:1",
"phenotype_combined": "Finnish type amyloidosis|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
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}
],
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}