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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: 2-241373156-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=241373156&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 241373156,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_014808.4",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "NM_014808.4",
"protein_id": "NP_055623.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1054,
"cds_start": 49,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000264042.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_014808.4"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000264042.8",
"protein_id": "ENSP00000264042.3",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 1054,
"cds_start": 49,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_014808.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000264042.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000373287.8",
"protein_id": "ENSP00000362384.4",
"transcript_support_level": 1,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 49,
"cds_end": null,
"cds_length": 1944,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000373287.8"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903053.1",
"protein_id": "ENSP00000573112.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1061,
"cds_start": 49,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903053.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903060.1",
"protein_id": "ENSP00000573119.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1054,
"cds_start": 49,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903060.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903056.1",
"protein_id": "ENSP00000573115.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1053,
"cds_start": 49,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903056.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903057.1",
"protein_id": "ENSP00000573116.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1053,
"cds_start": 49,
"cds_end": null,
"cds_length": 3162,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903057.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903054.1",
"protein_id": "ENSP00000573113.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1031,
"cds_start": 49,
"cds_end": null,
"cds_length": 3096,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903054.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000949506.1",
"protein_id": "ENSP00000619565.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1001,
"cds_start": 49,
"cds_end": null,
"cds_length": 3006,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949506.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903058.1",
"protein_id": "ENSP00000573117.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 945,
"cds_start": 49,
"cds_end": null,
"cds_length": 2838,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903058.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903052.1",
"protein_id": "ENSP00000573111.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 931,
"cds_start": 49,
"cds_end": null,
"cds_length": 2796,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903052.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903055.1",
"protein_id": "ENSP00000573114.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 911,
"cds_start": 49,
"cds_end": null,
"cds_length": 2736,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903055.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000903059.1",
"protein_id": "ENSP00000573118.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 858,
"cds_start": 49,
"cds_end": null,
"cds_length": 2577,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903059.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "NM_001282983.2",
"protein_id": "NP_001269912.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 647,
"cds_start": 49,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282983.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "NM_001282984.2",
"protein_id": "NP_001269913.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 638,
"cds_start": 49,
"cds_end": null,
"cds_length": 1917,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282984.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000627550.2",
"protein_id": "ENSP00000486597.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 638,
"cds_start": 49,
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"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000627550.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000418082.1",
"protein_id": "ENSP00000393376.1",
"transcript_support_level": 4,
"aa_start": 17,
"aa_end": null,
"aa_length": 133,
"cds_start": 49,
"cds_end": null,
"cds_length": 403,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000418082.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "ENST00000445489.1",
"protein_id": "ENSP00000388167.1",
"transcript_support_level": 2,
"aa_start": 17,
"aa_end": null,
"aa_length": 92,
"cds_start": 49,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000445489.1"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "XM_011512233.1",
"protein_id": "XP_011510535.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
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"cds_start": 49,
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"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512233.1"
},
{
"aa_ref": "R",
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "XM_011512234.2",
"protein_id": "XP_011510536.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1061,
"cds_start": 49,
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"cdna_start": null,
"cdna_end": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011512234.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "XM_024453259.2",
"protein_id": "XP_024309027.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1061,
"cds_start": 49,
"cds_end": null,
"cds_length": 3186,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_024453259.2"
},
{
"aa_ref": "R",
"aa_alt": "S",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "FARP2",
"gene_hgnc_id": 16460,
"hgvs_c": "c.49C>A",
"hgvs_p": "p.Arg17Ser",
"transcript": "XM_047446510.1",
"protein_id": "XP_047302466.1",
"transcript_support_level": null,
"aa_start": 17,
"aa_end": null,
"aa_length": 1054,
"cds_start": 49,
"cds_end": null,
"cds_length": 3165,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047446510.1"
},
{
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{
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],
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"dbsnp": "rs375264796",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 1,
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"gnomad_genomes_af": 0.00000659631,
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"gnomad_genomes_ac": 1,
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"computational_score_selected": 0.8033326864242554,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.637,
"revel_prediction": "Uncertain_significance",
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"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.26,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 4.359,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
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"acmg_score": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP3",
"acmg_by_gene": [
{
"score": 3,
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"criteria": [
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"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_014808.4",
"gene_symbol": "FARP2",
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"effects": [
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],
"inheritance_mode": "AR",
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],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}