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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: 8-63201708-G-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=8&pos=63201708&ref=G&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "8",
"pos": 63201708,
"ref": "G",
"alt": "T",
"effect": "intron_variant",
"transcript": "NM_001277813.2",
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1735-7975G>T",
"hgvs_p": null,
"transcript": "NM_152758.6",
"protein_id": "NP_689971.4",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "ENST00000539294.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_152758.6"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1735-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000539294.6",
"protein_id": "ENSP00000473496.2",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 585,
"cds_start": null,
"cds_end": null,
"cds_length": 1758,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5095,
"mane_select": "NM_152758.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000539294.6"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000623280.3",
"protein_id": "ENSP00000485046.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5193,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000623280.3"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "n.*1640-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000615676.1",
"protein_id": "ENSP00000483267.1",
"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": 5092,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000615676.1"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1744-7975G>T",
"hgvs_p": null,
"transcript": "NM_001277813.2",
"protein_id": "NP_001264742.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5241,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277813.2"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1744-7975G>T",
"hgvs_p": null,
"transcript": "NM_001277814.2",
"protein_id": "NP_001264743.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5061,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277814.2"
},
{
"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": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1744-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000621413.4",
"protein_id": "ENSP00000478490.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2370,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621413.4"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1744-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000621820.4",
"protein_id": "ENSP00000481476.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
"cds_end": null,
"cds_length": 1767,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2363,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621820.4"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1735-7978G>T",
"hgvs_p": null,
"transcript": "ENST00000934586.1",
"protein_id": "ENSP00000604645.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 584,
"cds_start": null,
"cds_end": null,
"cds_length": 1755,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 5091,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000934586.1"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1729-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000621957.4",
"protein_id": "ENSP00000483580.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 583,
"cds_start": null,
"cds_end": null,
"cds_length": 1752,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2387,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621957.4"
},
{
"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": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "NM_001277815.2",
"protein_id": "NP_001264744.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
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"cdna_length": 5126,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277815.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "NM_001277816.2",
"protein_id": "NP_001264745.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
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"cds_length": 1605,
"cdna_start": null,
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"cdna_length": 5009,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277816.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "NM_001277817.2",
"protein_id": "NP_001264746.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
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"cdna_start": null,
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"cdna_length": 5008,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277817.2"
},
{
"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": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "NM_001277818.2",
"protein_id": "NP_001264747.1",
"transcript_support_level": null,
"aa_start": null,
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"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001277818.2"
},
{
"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": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000617200.1",
"protein_id": "ENSP00000481497.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": 534,
"cds_start": null,
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"cdna_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000617200.1"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": 4,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000621890.4",
"protein_id": "ENSP00000478825.1",
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"cds_start": null,
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"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000621890.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.136-7975G>T",
"hgvs_p": null,
"transcript": "ENST00000517371.5",
"protein_id": "ENSP00000473986.1",
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": 52,
"cds_start": null,
"cds_end": null,
"cds_length": 159,
"cdna_start": null,
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"cdna_length": 3122,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000517371.5"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": 5,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1744-7975G>T",
"hgvs_p": null,
"transcript": "XM_011517509.4",
"protein_id": "XP_011515811.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 588,
"cds_start": null,
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"mane_select": null,
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"biotype": "protein_coding",
"feature": "XM_011517509.4"
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "c.1582-7975G>T",
"hgvs_p": null,
"transcript": "XM_011517510.4",
"protein_id": "XP_011515812.1",
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"biotype": "protein_coding",
"feature": "XM_011517510.4"
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": 3,
"intron_rank_end": null,
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"hgvs_c": "n.461-7975G>T",
"hgvs_p": null,
"transcript": "NR_102434.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
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"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3566,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "NR_102434.1"
}
],
"gene_symbol": "YTHDF3",
"gene_hgnc_id": 26465,
"dbsnp": "rs16930253",
"frequency_reference_population": 0.09859775,
"hom_count_reference_population": 841,
"allele_count_reference_population": 15005,
"gnomad_exomes_af": null,
"gnomad_genomes_af": 0.0985978,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": 15005,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": 841,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.949999988079071,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.95,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": -0.115,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": -12,
"acmg_classification": "Benign",
"acmg_criteria": "BP4_Strong,BA1",
"acmg_by_gene": [
{
"score": -12,
"benign_score": 12,
"pathogenic_score": 0,
"criteria": [
"BP4_Strong",
"BA1"
],
"verdict": "Benign",
"transcript": "NM_001277813.2",
"gene_symbol": "YTHDF3",
"hgnc_id": 26465,
"effects": [
"intron_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1744-7975G>T",
"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
}