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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: 18-3457389-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=18&pos=3457389&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "18",
"pos": 3457389,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "ENST00000343820.10",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Cys",
"transcript": "NM_003244.4",
"protein_id": "NP_003235.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 272,
"cds_start": 268,
"cds_end": null,
"cds_length": 819,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": "ENST00000343820.10",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Cys",
"transcript": "ENST00000343820.10",
"protein_id": "ENSP00000339631.6",
"transcript_support_level": 1,
"aa_start": 90,
"aa_end": null,
"aa_length": 272,
"cds_start": 268,
"cds_end": null,
"cds_length": 819,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 3175,
"mane_select": "NM_003244.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000330513.10",
"protein_id": "ENSP00000327959.6",
"transcript_support_level": 1,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 958,
"cdna_end": null,
"cdna_length": 1980,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Cys",
"transcript": "NM_173207.4",
"protein_id": "NP_775299.1",
"transcript_support_level": null,
"aa_start": 104,
"aa_end": null,
"aa_length": 286,
"cds_start": 310,
"cds_end": null,
"cds_length": 861,
"cdna_start": 508,
"cdna_end": null,
"cdna_length": 3097,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.310C>T",
"hgvs_p": "p.Arg104Cys",
"transcript": "ENST00000618001.4",
"protein_id": "ENSP00000483499.1",
"transcript_support_level": 2,
"aa_start": 104,
"aa_end": null,
"aa_length": 286,
"cds_start": 310,
"cds_end": null,
"cds_length": 861,
"cdna_start": 441,
"cdna_end": null,
"cdna_length": 3030,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.277C>T",
"hgvs_p": "p.Arg93Cys",
"transcript": "NM_001278682.2",
"protein_id": "NP_001265611.1",
"transcript_support_level": null,
"aa_start": 93,
"aa_end": null,
"aa_length": 275,
"cds_start": 277,
"cds_end": null,
"cds_length": 828,
"cdna_start": 341,
"cdna_end": null,
"cdna_length": 2930,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Cys",
"transcript": "NM_001278684.2",
"protein_id": "NP_001265613.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 272,
"cds_start": 268,
"cds_end": null,
"cds_length": 819,
"cdna_start": 797,
"cdna_end": null,
"cdna_length": 3386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Cys",
"transcript": "NM_173208.3",
"protein_id": "NP_775300.1",
"transcript_support_level": null,
"aa_start": 90,
"aa_end": null,
"aa_length": 272,
"cds_start": 268,
"cds_end": null,
"cds_length": 819,
"cdna_start": 800,
"cdna_end": null,
"cdna_length": 3389,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.268C>T",
"hgvs_p": "p.Arg90Cys",
"transcript": "ENST00000407501.6",
"protein_id": "ENSP00000384133.2",
"transcript_support_level": 3,
"aa_start": 90,
"aa_end": null,
"aa_length": 272,
"cds_start": 268,
"cds_end": null,
"cds_length": 819,
"cdna_start": 625,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_001278686.3",
"protein_id": "NP_001265615.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 521,
"cdna_end": null,
"cdna_length": 3110,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_001374396.1",
"protein_id": "NP_001361325.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 361,
"cdna_end": null,
"cdna_length": 2950,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_001374397.1",
"protein_id": "NP_001361326.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 431,
"cdna_end": null,
"cdna_length": 3020,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_170695.5",
"protein_id": "NP_733796.3",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 1042,
"cdna_end": null,
"cdna_length": 3631,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_173209.3",
"protein_id": "NP_775301.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
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"cdna_start": 616,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_173210.4",
"protein_id": "NP_775302.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 435,
"cdna_end": null,
"cdna_length": 3024,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_173211.2",
"protein_id": "NP_775303.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
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"cdna_start": 335,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "NM_174886.3",
"protein_id": "NP_777480.1",
"transcript_support_level": null,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 571,
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"cdna_length": 3160,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000345133.9",
"protein_id": "ENSP00000343969.5",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 354,
"cdna_end": null,
"cdna_length": 1088,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000400167.6",
"protein_id": "ENSP00000383031.2",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
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"cdna_start": 335,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000401449.5",
"protein_id": "ENSP00000385206.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
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"cds_start": 208,
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"cdna_start": 653,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000405385.7",
"protein_id": "ENSP00000384970.2",
"transcript_support_level": 2,
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"cdna_start": 672,
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"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000472042.1",
"protein_id": "ENSP00000449501.1",
"transcript_support_level": 2,
"aa_start": 70,
"aa_end": null,
"aa_length": 252,
"cds_start": 208,
"cds_end": null,
"cds_length": 759,
"cdna_start": 1192,
"cdna_end": null,
"cdna_length": 2214,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "C",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "TGIF1",
"gene_hgnc_id": 11776,
"hgvs_c": "c.208C>T",
"hgvs_p": "p.Arg70Cys",
"transcript": "ENST00000548489.6",
"protein_id": "ENSP00000447747.2",
"transcript_support_level": 3,
"aa_start": 70,
"aa_end": null,
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}