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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: 6-63646806-CTTTTTTTTT-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=63646806&ref=CTTTTTTTTT&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 63646806,
"ref": "CTTTTTTTTT",
"alt": "C",
"effect": "intron_variant",
"transcript": "NM_015153.4",
"consequences": [
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+25_244+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001370348.2",
"protein_id": "NP_001357277.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000262043.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001370348.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000262043.8",
"protein_id": "ENSP00000262043.4",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001370348.2",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000262043.8"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000393387.5",
"protein_id": "ENSP00000377048.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000393387.5"
},
{
"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": 12,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-153+10657_-153+10665delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000506783.5",
"protein_id": "ENSP00000424694.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 1071,
"cds_start": null,
"cds_end": null,
"cds_length": 3217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000506783.5"
},
{
"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": 4,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000509330.5",
"protein_id": "ENSP00000422841.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 736,
"cds_start": null,
"cds_end": null,
"cds_length": 2211,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000509330.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "n.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000509876.5",
"protein_id": "ENSP00000424994.1",
"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": "nonsense_mediated_decay",
"feature": "ENST00000509876.5"
},
{
"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": 15,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+25_244+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_015153.4",
"protein_id": "NP_055968.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015153.4"
},
{
"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": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000903919.1",
"protein_id": "ENSP00000573978.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
"cds_end": null,
"cds_length": 6120,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000903919.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935699.1",
"protein_id": "ENSP00000605758.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
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"cds_length": 6120,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935699.1"
},
{
"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": 17,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935701.1",
"protein_id": "ENSP00000605760.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 2039,
"cds_start": null,
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"cds_length": 6120,
"cdna_start": null,
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"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935701.1"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935702.1",
"protein_id": "ENSP00000605761.1",
"transcript_support_level": null,
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"cds_start": null,
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"cdna_start": null,
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},
{
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"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.244+12_244+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000935700.1",
"protein_id": "ENSP00000605759.1",
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"aa_start": null,
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"aa_length": 1985,
"cds_start": null,
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"cdna_start": null,
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"biotype": "protein_coding",
"feature": "ENST00000935700.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
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],
"exon_rank": null,
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"exon_count": 17,
"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-214+25_-214+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001290259.2",
"protein_id": "NP_001277188.1",
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"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "NM_001290259.2"
},
{
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"strand": true,
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],
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"gene_symbol": "PHF3",
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"hgvs_c": "c.-21+10670_-21+10678delTTTTTTTTT",
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"transcript": "NM_001370349.2",
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"biotype": "protein_coding",
"feature": "NM_001370349.2"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 2,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-167+25_-167+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001370350.2",
"protein_id": "NP_001357279.1",
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},
{
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],
"exon_rank": null,
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"gene_symbol": "PHF3",
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"hgvs_c": "c.-167+10657_-167+10665delTTTTTTTTT",
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"transcript": "ENST00000515594.5",
"protein_id": "ENSP00000425338.1",
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},
{
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"strand": true,
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],
"exon_rank": null,
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"exon_count": 6,
"intron_rank": 2,
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"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.103+12_103+20delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000494284.6",
"protein_id": "ENSP00000424078.1",
"transcript_support_level": 2,
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"biotype": "protein_coding",
"feature": "ENST00000494284.6"
},
{
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"strand": true,
"consequences": [
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],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-21+10657_-21+10665delTTTTTTTTT",
"hgvs_p": null,
"transcript": "ENST00000481385.6",
"protein_id": "ENSP00000425227.1",
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},
{
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],
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"gene_symbol": "PHF3",
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"hgvs_c": "c.244+25_244+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "NM_001290260.2",
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"feature": "NM_001290260.2"
},
{
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"strand": true,
"consequences": [
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],
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"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
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},
{
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"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
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"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-583+25_-583+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047418528.1",
"protein_id": "XP_047274484.1",
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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_047418528.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-214+9998_-214+10006delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047418529.1",
"protein_id": "XP_047274485.1",
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418529.1"
},
{
"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": 16,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"hgvs_c": "c.-214+25_-214+33delTTTTTTTTT",
"hgvs_p": null,
"transcript": "XM_047418530.1",
"protein_id": "XP_047274486.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1951,
"cds_start": null,
"cds_end": null,
"cds_length": 5856,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047418530.1"
}
],
"gene_symbol": "PHF3",
"gene_hgnc_id": 8921,
"dbsnp": "rs11285703",
"frequency_reference_population": 0.0000032311777,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000323118,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": 3,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": null,
"computational_prediction_selected": null,
"computational_source_selected": null,
"splice_score_selected": null,
"splice_prediction_selected": null,
"splice_source_selected": null,
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": null,
"bayesdelnoaf_prediction": null,
"phylop100way_score": 3.233,
"phylop100way_prediction": "Benign",
"spliceai_max_score": null,
"spliceai_max_prediction": null,
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 2,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2",
"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_015153.4",
"gene_symbol": "PHF3",
"hgnc_id": 8921,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.244+25_244+33delTTTTTTTTT",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}