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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: 17-44913430-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=44913430&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "17",
"pos": 44913430,
"ref": "C",
"alt": "T",
"effect": "missense_variant,splice_region_variant",
"transcript": "NM_001363846.2",
"consequences": [
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "NM_002055.5",
"protein_id": "NP_002046.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 432,
"cds_start": 619,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000588735.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_002055.5"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000588735.3",
"protein_id": "ENSP00000466598.2",
"transcript_support_level": 1,
"aa_start": 207,
"aa_end": null,
"aa_length": 432,
"cds_start": 619,
"cds_end": null,
"cds_length": 1299,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_002055.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588735.3"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.1773G>A",
"hgvs_p": null,
"transcript": "ENST00000591327.2",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000591327.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000639277.1",
"protein_id": "ENSP00000492432.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 505,
"cds_start": 619,
"cds_end": null,
"cds_length": 1518,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000639277.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "NM_001363846.2",
"protein_id": "NP_001350775.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 472,
"cds_start": 619,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001363846.2"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000253408.11",
"protein_id": "ENSP00000253408.5",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 472,
"cds_start": 619,
"cds_end": null,
"cds_length": 1419,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000253408.11"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000867443.1",
"protein_id": "ENSP00000537502.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 440,
"cds_start": 619,
"cds_end": null,
"cds_length": 1323,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867443.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "NM_001242376.3",
"protein_id": "NP_001229305.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 438,
"cds_start": 619,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001242376.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000638281.1",
"protein_id": "ENSP00000491088.1",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 438,
"cds_start": 619,
"cds_end": null,
"cds_length": 1317,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638281.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "NM_001131019.3",
"protein_id": "NP_001124491.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 431,
"cds_start": 619,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001131019.3"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000435360.8",
"protein_id": "ENSP00000403962.1",
"transcript_support_level": 2,
"aa_start": 207,
"aa_end": null,
"aa_length": 431,
"cds_start": 619,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000435360.8"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000867445.1",
"protein_id": "ENSP00000537504.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 429,
"cds_start": 619,
"cds_end": null,
"cds_length": 1290,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867445.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000867444.1",
"protein_id": "ENSP00000537503.1",
"transcript_support_level": null,
"aa_start": 207,
"aa_end": null,
"aa_length": 425,
"cds_start": 619,
"cds_end": null,
"cds_length": 1278,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867444.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.355G>A",
"hgvs_p": "p.Glu119Lys",
"transcript": "ENST00000867446.1",
"protein_id": "ENSP00000537505.1",
"transcript_support_level": null,
"aa_start": 119,
"aa_end": null,
"aa_length": 344,
"cds_start": 355,
"cds_end": null,
"cds_length": 1035,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867446.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys",
"transcript": "ENST00000586793.6",
"protein_id": "ENSP00000468500.2",
"transcript_support_level": 5,
"aa_start": 207,
"aa_end": null,
"aa_length": 333,
"cds_start": 619,
"cds_end": null,
"cds_length": 1004,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000586793.6"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.274G>A",
"hgvs_p": "p.Glu92Lys",
"transcript": "ENST00000638618.1",
"protein_id": "ENSP00000492832.1",
"transcript_support_level": 5,
"aa_start": 92,
"aa_end": null,
"aa_length": 326,
"cds_start": 274,
"cds_end": null,
"cds_length": 981,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000638618.1"
},
{
"aa_ref": "E",
"aa_alt": "K",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant",
"splice_region_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.523G>A",
"hgvs_p": "p.Glu175Lys",
"transcript": "ENST00000588316.1",
"protein_id": "ENSP00000465629.1",
"transcript_support_level": 5,
"aa_start": 175,
"aa_end": null,
"aa_length": 260,
"cds_start": 523,
"cds_end": null,
"cds_length": 785,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588316.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.-114G>A",
"hgvs_p": null,
"transcript": "ENST00000588957.5",
"protein_id": "ENSP00000465565.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588957.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"5_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.-114G>A",
"hgvs_p": null,
"transcript": "ENST00000588957.5",
"protein_id": "ENSP00000465565.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 56,
"cds_start": null,
"cds_end": null,
"cds_length": 172,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000588957.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.619-3G>A",
"hgvs_p": null,
"transcript": "ENST00000867442.1",
"protein_id": "ENSP00000537501.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 431,
"cds_start": null,
"cds_end": null,
"cds_length": 1296,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867442.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "c.618+298G>A",
"hgvs_p": null,
"transcript": "ENST00000592320.6",
"protein_id": "ENSP00000465320.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 247,
"cds_start": null,
"cds_end": null,
"cds_length": 745,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000592320.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"splice_region_variant",
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "GFAP",
"gene_hgnc_id": 4235,
"hgvs_c": "n.*18G>A",
"hgvs_p": null,
"transcript": "ENST00000376990.8",
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{
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"biotype": "pseudogene",
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{
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{
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"non_coding_transcript_exon_variant"
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{
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{
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],
"gene_symbol": "GFAP",
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"dbsnp": "rs267607500",
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
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"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.9842891693115234,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.9580000042915344,
"splice_prediction_selected": "Pathogenic",
"splice_source_selected": "dbscSNV1_RF",
"revel_score": 0.958,
"revel_prediction": "Pathogenic",
"alphamissense_score": 0.8222,
"alphamissense_prediction": null,
"bayesdelnoaf_score": 0.55,
"bayesdelnoaf_prediction": "Pathogenic",
"phylop100way_score": 7.821,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.61,
"spliceai_max_prediction": "Pathogenic",
"dbscsnv_ada_score": 0.999915070215684,
"dbscsnv_ada_prediction": "Pathogenic",
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 6,
"acmg_classification": "Likely_pathogenic",
"acmg_criteria": "PM2,PM5,PP3_Moderate",
"acmg_by_gene": [
{
"score": 6,
"benign_score": 0,
"pathogenic_score": 6,
"criteria": [
"PM2",
"PM5",
"PP3_Moderate"
],
"verdict": "Likely_pathogenic",
"transcript": "NM_001363846.2",
"gene_symbol": "GFAP",
"hgnc_id": 4235,
"effects": [
"missense_variant",
"splice_region_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.619G>A",
"hgvs_p": "p.Glu207Lys"
}
],
"clinvar_disease": "Alexander disease,not provided",
"clinvar_classification": "not provided",
"clinvar_review_status": "no classification provided",
"clinvar_submissions_summary": "O:2",
"phenotype_combined": "not provided|Alexander disease",
"pathogenicity_classification_combined": "not provided",
"custom_annotations": null
}
],
"message": null
}