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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: 2-197398016-T-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=2&pos=197398016&ref=T&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "2",
"pos": 197398016,
"ref": "T",
"alt": "C",
"effect": "missense_variant",
"transcript": "NM_012433.4",
"consequences": [
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3235A>G",
"hgvs_p": "p.Asn1079Asp",
"transcript": "NM_012433.4",
"protein_id": "NP_036565.2",
"transcript_support_level": null,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": "ENST00000335508.11",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_012433.4"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3235A>G",
"hgvs_p": "p.Asn1079Asp",
"transcript": "ENST00000335508.11",
"protein_id": "ENSP00000335321.6",
"transcript_support_level": 1,
"aa_start": 1079,
"aa_end": null,
"aa_length": 1304,
"cds_start": 3235,
"cds_end": null,
"cds_length": 3915,
"cdna_start": 3264,
"cdna_end": null,
"cdna_length": 6463,
"mane_select": "NM_012433.4",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000335508.11"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3232A>G",
"hgvs_p": "p.Asn1078Asp",
"transcript": "ENST00000929354.1",
"protein_id": "ENSP00000599413.1",
"transcript_support_level": null,
"aa_start": 1078,
"aa_end": null,
"aa_length": 1303,
"cds_start": 3232,
"cds_end": null,
"cds_length": 3912,
"cdna_start": 3262,
"cdna_end": null,
"cdna_length": 4410,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929354.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3154A>G",
"hgvs_p": "p.Asn1052Asp",
"transcript": "ENST00000929356.1",
"protein_id": "ENSP00000599415.1",
"transcript_support_level": null,
"aa_start": 1052,
"aa_end": null,
"aa_length": 1277,
"cds_start": 3154,
"cds_end": null,
"cds_length": 3834,
"cdna_start": 3181,
"cdna_end": null,
"cdna_length": 4180,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929356.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3064A>G",
"hgvs_p": "p.Asn1022Asp",
"transcript": "ENST00000963258.1",
"protein_id": "ENSP00000633317.1",
"transcript_support_level": null,
"aa_start": 1022,
"aa_end": null,
"aa_length": 1247,
"cds_start": 3064,
"cds_end": null,
"cds_length": 3744,
"cdna_start": 3113,
"cdna_end": null,
"cdna_length": 4121,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963258.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2869A>G",
"hgvs_p": "p.Asn957Asp",
"transcript": "ENST00000963259.1",
"protein_id": "ENSP00000633318.1",
"transcript_support_level": null,
"aa_start": 957,
"aa_end": null,
"aa_length": 1182,
"cds_start": 2869,
"cds_end": null,
"cds_length": 3549,
"cdna_start": 2915,
"cdna_end": null,
"cdna_length": 3911,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963259.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2362A>G",
"hgvs_p": "p.Asn788Asp",
"transcript": "ENST00000963257.1",
"protein_id": "ENSP00000633316.1",
"transcript_support_level": null,
"aa_start": 788,
"aa_end": null,
"aa_length": 1013,
"cds_start": 2362,
"cds_end": null,
"cds_length": 3042,
"cdna_start": 2400,
"cdna_end": null,
"cdna_length": 3475,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000963257.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.280A>G",
"hgvs_p": "p.Asn94Asp",
"transcript": "ENST00000424674.1",
"protein_id": "ENSP00000409435.1",
"transcript_support_level": 4,
"aa_start": 94,
"aa_end": null,
"aa_length": 239,
"cds_start": 280,
"cds_end": null,
"cds_length": 721,
"cdna_start": 282,
"cdna_end": null,
"cdna_length": 723,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000424674.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Asn933Asp",
"transcript": "XM_047443838.1",
"protein_id": "XP_047299794.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 4529,
"cdna_end": null,
"cdna_length": 7728,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443838.1"
},
{
"aa_ref": "N",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.2797A>G",
"hgvs_p": "p.Asn933Asp",
"transcript": "XM_047443839.1",
"protein_id": "XP_047299795.1",
"transcript_support_level": null,
"aa_start": 933,
"aa_end": null,
"aa_length": 1158,
"cds_start": 2797,
"cds_end": null,
"cds_length": 3477,
"cdna_start": 4245,
"cdna_end": null,
"cdna_length": 7444,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047443839.1"
},
{
"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": 24,
"intron_rank": 21,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "c.3134+445A>G",
"hgvs_p": null,
"transcript": "ENST00000929355.1",
"protein_id": "ENSP00000599414.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 1260,
"cds_start": null,
"cds_end": null,
"cds_length": 3783,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 4138,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000929355.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.5119A>G",
"hgvs_p": null,
"transcript": "ENST00000470268.2",
"protein_id": null,
"transcript_support_level": 2,
"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": 8308,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000470268.2"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.413A>G",
"hgvs_p": null,
"transcript": "ENST00000496458.1",
"protein_id": null,
"transcript_support_level": 2,
"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": 475,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000496458.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*4302A>G",
"hgvs_p": null,
"transcript": "ENST00000652026.1",
"protein_id": "ENSP00000498652.1",
"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": 9283,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*3494A>G",
"hgvs_p": null,
"transcript": "ENST00000652738.1",
"protein_id": "ENSP00000499119.1",
"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": 8478,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652738.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*4302A>G",
"hgvs_p": null,
"transcript": "ENST00000652026.1",
"protein_id": "ENSP00000498652.1",
"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": 9283,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652026.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"hgvs_c": "n.*3494A>G",
"hgvs_p": null,
"transcript": "ENST00000652738.1",
"protein_id": "ENSP00000499119.1",
"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": 8478,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000652738.1"
}
],
"gene_symbol": "SF3B1",
"gene_hgnc_id": 10768,
"dbsnp": null,
"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,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.7345744371414185,
"computational_prediction_selected": "Uncertain_significance",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.428,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.9929,
"alphamissense_prediction": "Pathogenic",
"bayesdelnoaf_score": -0.22,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 7.835,
"phylop100way_prediction": "Pathogenic",
"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": 3,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,PP2",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP2"
],
"verdict": "Uncertain_significance",
"transcript": "NM_012433.4",
"gene_symbol": "SF3B1",
"hgnc_id": 10768,
"effects": [
"missense_variant"
],
"inheritance_mode": "AD",
"hgvs_c": "c.3235A>G",
"hgvs_p": "p.Asn1079Asp"
}
],
"clinvar_disease": "SF3B1-related disorder",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "US:1",
"phenotype_combined": "SF3B1-related disorder",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}