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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: 8-93704967-TAGAA-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=93704967&ref=TAGAA&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 93704967,
"ref": "TAGAA",
"alt": "T",
"effect": "frameshift_variant",
"transcript": "NM_145269.5",
"consequences": [
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs",
"transcript": "NM_145269.5",
"protein_id": "NP_660312.2",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 289,
"cds_start": 394,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000518322.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_145269.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs",
"transcript": "ENST00000518322.6",
"protein_id": "ENSP00000429367.1",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 289,
"cds_start": 394,
"cds_end": null,
"cds_length": 870,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_145269.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518322.6"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs",
"transcript": "NM_001283034.2",
"protein_id": "NP_001269963.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 251,
"cds_start": 394,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001283034.2"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs",
"transcript": "ENST00000423990.6",
"protein_id": "ENSP00000401774.2",
"transcript_support_level": 5,
"aa_start": 132,
"aa_end": null,
"aa_length": 251,
"cds_start": 394,
"cds_end": null,
"cds_length": 756,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000423990.6"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.424_427delAGAA",
"hgvs_p": "p.Arg142fs",
"transcript": "ENST00000523453.5",
"protein_id": "ENSP00000430812.1",
"transcript_support_level": 5,
"aa_start": 142,
"aa_end": null,
"aa_length": 186,
"cds_start": 424,
"cds_end": null,
"cds_length": 562,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523453.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.418_421delAGAA",
"hgvs_p": "p.Arg140fs",
"transcript": "ENST00000522803.5",
"protein_id": "ENSP00000428739.1",
"transcript_support_level": 5,
"aa_start": 140,
"aa_end": null,
"aa_length": 167,
"cds_start": 418,
"cds_end": null,
"cds_length": 505,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522803.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs",
"transcript": "ENST00000522324.5",
"protein_id": "ENSP00000430069.1",
"transcript_support_level": 2,
"aa_start": 132,
"aa_end": null,
"aa_length": 162,
"cds_start": 394,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000522324.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.184_187delAGAA",
"hgvs_p": "p.Arg62fs",
"transcript": "ENST00000518829.5",
"protein_id": "ENSP00000428446.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 109,
"cds_start": 184,
"cds_end": null,
"cds_length": 331,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000518829.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.184_187delAGAA",
"hgvs_p": "p.Arg62fs",
"transcript": "ENST00000523475.5",
"protein_id": "ENSP00000430217.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 78,
"cds_start": 184,
"cds_end": null,
"cds_length": 237,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000523475.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.184_187delAGAA",
"hgvs_p": "p.Arg62fs",
"transcript": "ENST00000520955.5",
"protein_id": "ENSP00000427991.1",
"transcript_support_level": 5,
"aa_start": 62,
"aa_end": null,
"aa_length": 64,
"cds_start": 184,
"cds_end": null,
"cds_length": 196,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000520955.5"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.73_76delAGAA",
"hgvs_p": "p.Arg25fs",
"transcript": "ENST00000519135.1",
"protein_id": "ENSP00000428633.1",
"transcript_support_level": 3,
"aa_start": 25,
"aa_end": null,
"aa_length": 36,
"cds_start": 73,
"cds_end": null,
"cds_length": 111,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000519135.1"
},
{
"aa_ref": "RT",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs",
"transcript": "XM_047421350.1",
"protein_id": "XP_047277306.1",
"transcript_support_level": null,
"aa_start": 132,
"aa_end": null,
"aa_length": 162,
"cds_start": 394,
"cds_end": null,
"cds_length": 489,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047421350.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.330+1284_330+1287delAGAA",
"hgvs_p": null,
"transcript": "ENST00000933184.1",
"protein_id": "ENSP00000603243.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 281,
"cds_start": null,
"cds_end": null,
"cds_length": 846,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933184.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.330+1284_330+1287delAGAA",
"hgvs_p": null,
"transcript": "ENST00000949630.1",
"protein_id": "ENSP00000619689.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 218,
"cds_start": null,
"cds_end": null,
"cds_length": 657,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000949630.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "c.330+1284_330+1287delAGAA",
"hgvs_p": null,
"transcript": "ENST00000933183.1",
"protein_id": "ENSP00000603242.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 215,
"cds_start": null,
"cds_end": null,
"cds_length": 648,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000933183.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.394_397delAGAA",
"hgvs_p": null,
"transcript": "ENST00000359421.9",
"protein_id": "ENSP00000352391.5",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000359421.9"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.394_397delAGAA",
"hgvs_p": null,
"transcript": "ENST00000452913.6",
"protein_id": "ENSP00000391671.2",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000452913.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.394_397delAGAA",
"hgvs_p": null,
"transcript": "ENST00000518116.5",
"protein_id": "ENSP00000428065.1",
"transcript_support_level": 5,
"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": "nonsense_mediated_decay",
"feature": "ENST00000518116.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.*214_*217delAGAA",
"hgvs_p": null,
"transcript": "ENST00000520937.5",
"protein_id": "ENSP00000429722.1",
"transcript_support_level": 3,
"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": "nonsense_mediated_decay",
"feature": "ENST00000520937.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.1574_1577delAGAA",
"hgvs_p": null,
"transcript": "ENST00000523577.5",
"protein_id": null,
"transcript_support_level": 5,
"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": "ENST00000523577.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.492_495delAGAA",
"hgvs_p": null,
"transcript": "NR_104267.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_104267.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CIBAR1",
"gene_hgnc_id": 30452,
"hgvs_c": "n.492_495delAGAA",
"hgvs_p": null,
"transcript": "NR_104268.2",
"protein_id": null,
"transcript_support_level": null,
"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": "pseudogene",
"feature": "NR_104268.2"
},
{
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{
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{
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{
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{
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],
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"dbsnp": "rs762464497",
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"hom_count_reference_population": 0,
"allele_count_reference_population": 6,
"gnomad_exomes_af": 0.00000410795,
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"gnomad_exomes_ac": 6,
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"gnomad_exomes_homalt": 0,
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"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 9.147,
"phylop100way_prediction": "Pathogenic",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
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"mitotip_score": null,
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"acmg_score": 12,
"acmg_classification": "Pathogenic",
"acmg_criteria": "PVS1,PM2,PP5_Moderate",
"acmg_by_gene": [
{
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"pathogenic_score": 12,
"criteria": [
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"PM2",
"PP5_Moderate"
],
"verdict": "Pathogenic",
"transcript": "NM_145269.5",
"gene_symbol": "CIBAR1",
"hgnc_id": 30452,
"effects": [
"frameshift_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.394_397delAGAA",
"hgvs_p": "p.Arg132fs"
}
],
"clinvar_disease": " postaxial, type A9,Polydactyly",
"clinvar_classification": "Likely pathogenic",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LP:1",
"phenotype_combined": "Polydactyly, postaxial, type A9",
"pathogenicity_classification_combined": "Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}