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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: 9-14737490-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=14737490&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 14737490,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "ENST00000380880.4",
"consequences": [
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6446A>G",
"hgvs_p": "p.Lys2149Arg",
"transcript": "NM_001379081.2",
"protein_id": "NP_001366010.1",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6446,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 7228,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "ENST00000380880.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6446A>G",
"hgvs_p": "p.Lys2149Arg",
"transcript": "ENST00000380880.4",
"protein_id": "ENSP00000370262.3",
"transcript_support_level": 5,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6446,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 7228,
"cdna_end": null,
"cdna_length": 7566,
"mane_select": "NM_001379081.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Lys685Arg",
"transcript": "ENST00000380894.5",
"protein_id": "ENSP00000370278.1",
"transcript_support_level": 1,
"aa_start": 685,
"aa_end": null,
"aa_length": 715,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2143,
"cdna_end": null,
"cdna_length": 2481,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.*1012A>G",
"hgvs_p": null,
"transcript": "ENST00000380875.7",
"protein_id": "ENSP00000370257.3",
"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": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 31,
"exon_rank_end": null,
"exon_count": 31,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "n.*1012A>G",
"hgvs_p": null,
"transcript": "ENST00000380875.7",
"protein_id": "ENSP00000370257.3",
"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": 6126,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6446A>G",
"hgvs_p": "p.Lys2149Arg",
"transcript": "NM_144966.7",
"protein_id": "NP_659403.4",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6446,
"cds_end": null,
"cds_length": 6540,
"cdna_start": 7262,
"cdna_end": null,
"cdna_length": 7600,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Lys685Arg",
"transcript": "NM_001177704.3",
"protein_id": "NP_001171175.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 715,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 3041,
"cdna_end": null,
"cdna_length": 3379,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2054A>G",
"hgvs_p": "p.Lys685Arg",
"transcript": "NM_001370061.2",
"protein_id": "NP_001356990.1",
"transcript_support_level": null,
"aa_start": 685,
"aa_end": null,
"aa_length": 715,
"cds_start": 2054,
"cds_end": null,
"cds_length": 2148,
"cdna_start": 2563,
"cdna_end": null,
"cdna_length": 2901,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_017014316.3",
"protein_id": "XP_016869805.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2188,
"cds_start": 6473,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 7255,
"cdna_end": null,
"cdna_length": 7593,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 39,
"exon_rank_end": null,
"exon_count": 39,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_017014319.3",
"protein_id": "XP_016869808.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2188,
"cds_start": 6473,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 7457,
"cdna_end": null,
"cdna_length": 7795,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_017014320.3",
"protein_id": "XP_016869809.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2188,
"cds_start": 6473,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 7384,
"cdna_end": null,
"cdna_length": 7722,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_017014321.3",
"protein_id": "XP_016869810.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2188,
"cds_start": 6473,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 7047,
"cdna_end": null,
"cdna_length": 7385,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_017014322.2",
"protein_id": "XP_016869811.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2188,
"cds_start": 6473,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 7014,
"cdna_end": null,
"cdna_length": 7352,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_047422844.1",
"protein_id": "XP_047278800.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
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"cds_start": 6473,
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"cdna_start": 7289,
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"cdna_length": 7627,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6473A>G",
"hgvs_p": "p.Lys2158Arg",
"transcript": "XM_047422845.1",
"protein_id": "XP_047278801.1",
"transcript_support_level": null,
"aa_start": 2158,
"aa_end": null,
"aa_length": 2188,
"cds_start": 6473,
"cds_end": null,
"cds_length": 6567,
"cdna_start": 7553,
"cdna_end": null,
"cdna_length": 7891,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6446A>G",
"hgvs_p": "p.Lys2149Arg",
"transcript": "XM_047422846.1",
"protein_id": "XP_047278802.1",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6446,
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"cdna_start": 7020,
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"cdna_length": 7358,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 37,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6446A>G",
"hgvs_p": "p.Lys2149Arg",
"transcript": "XM_047422847.1",
"protein_id": "XP_047278803.1",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6446,
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"cds_length": 6540,
"cdna_start": 6987,
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"cdna_length": 7325,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 38,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6446A>G",
"hgvs_p": "p.Lys2149Arg",
"transcript": "XM_047422848.1",
"protein_id": "XP_047278804.1",
"transcript_support_level": null,
"aa_start": 2149,
"aa_end": null,
"aa_length": 2179,
"cds_start": 6446,
"cds_end": null,
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"cdna_start": 7357,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6323A>G",
"hgvs_p": "p.Lys2108Arg",
"transcript": "XM_017014324.3",
"protein_id": "XP_016869813.1",
"transcript_support_level": null,
"aa_start": 2108,
"aa_end": null,
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"cds_start": 6323,
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"cdna_start": 7105,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 36,
"exon_rank_end": null,
"exon_count": 36,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.6065A>G",
"hgvs_p": "p.Lys2022Arg",
"transcript": "XM_017014326.2",
"protein_id": "XP_016869815.1",
"transcript_support_level": null,
"aa_start": 2022,
"aa_end": null,
"aa_length": 2052,
"cds_start": 6065,
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"cdna_start": 6390,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 33,
"exon_rank_end": null,
"exon_count": 33,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.5549A>G",
"hgvs_p": "p.Lys1850Arg",
"transcript": "XM_017014327.3",
"protein_id": "XP_016869816.1",
"transcript_support_level": null,
"aa_start": 1850,
"aa_end": null,
"aa_length": 1880,
"cds_start": 5549,
"cds_end": null,
"cds_length": 5643,
"cdna_start": 5698,
"cdna_end": null,
"cdna_length": 6036,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FREM1",
"gene_hgnc_id": 23399,
"hgvs_c": "c.2090A>G",
"hgvs_p": "p.Lys697Arg",
"transcript": "XM_011517758.3",
"protein_id": "XP_011516060.1",
"transcript_support_level": null,
"aa_start": 697,
"aa_end": null,
"aa_length": 727,
"cds_start": 2090,
"cds_end": null,
"cds_length": 2184,
"cdna_start": 3038,
"cdna_end": null,
"cdna_length": 3376,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "K",
"aa_alt": "R",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
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"splice_prediction_selected": "Benign",
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{
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],
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],
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"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}