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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: 7-80798214-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80798214&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "7",
"pos": 80798214,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001350120.2",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "NM_006379.5",
"protein_id": "NP_006370.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265361.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_006379.5"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000265361.8",
"protein_id": "ENSP00000265361.3",
"transcript_support_level": 1,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_006379.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265361.8"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1183G>T",
"hgvs_p": "p.Val395Leu",
"transcript": "ENST00000953788.1",
"protein_id": "ENSP00000623847.1",
"transcript_support_level": null,
"aa_start": 395,
"aa_end": null,
"aa_length": 809,
"cds_start": 1183,
"cds_end": null,
"cds_length": 2430,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953788.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1126G>T",
"hgvs_p": "p.Val376Leu",
"transcript": "ENST00000953787.1",
"protein_id": "ENSP00000623846.1",
"transcript_support_level": null,
"aa_start": 376,
"aa_end": null,
"aa_length": 790,
"cds_start": 1126,
"cds_end": null,
"cds_length": 2373,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953787.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1063G>T",
"hgvs_p": "p.Val355Leu",
"transcript": "NM_001350120.2",
"protein_id": "NP_001337049.1",
"transcript_support_level": null,
"aa_start": 355,
"aa_end": null,
"aa_length": 769,
"cds_start": 1063,
"cds_end": null,
"cds_length": 2310,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350120.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000878448.1",
"protein_id": "ENSP00000548507.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 754,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2265,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878448.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000419255.6",
"protein_id": "ENSP00000411193.2",
"transcript_support_level": 2,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000419255.6"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000878446.1",
"protein_id": "ENSP00000548505.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878446.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000878449.1",
"protein_id": "ENSP00000548508.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878449.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000953794.1",
"protein_id": "ENSP00000623853.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953794.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000953795.1",
"protein_id": "ENSP00000623854.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 751,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2256,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953795.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000953790.1",
"protein_id": "ENSP00000623849.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 750,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2253,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953790.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000953789.1",
"protein_id": "ENSP00000623848.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 749,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2250,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953789.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.1009G>T",
"hgvs_p": "p.Val337Leu",
"transcript": "ENST00000953792.1",
"protein_id": "ENSP00000623851.1",
"transcript_support_level": null,
"aa_start": 337,
"aa_end": null,
"aa_length": 738,
"cds_start": 1009,
"cds_end": null,
"cds_length": 2217,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953792.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.889G>T",
"hgvs_p": "p.Val297Leu",
"transcript": "ENST00000953793.1",
"protein_id": "ENSP00000623852.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 711,
"cds_start": 889,
"cds_end": null,
"cds_length": 2136,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953793.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.835G>T",
"hgvs_p": "p.Val279Leu",
"transcript": "NM_001350121.2",
"protein_id": "NP_001337050.1",
"transcript_support_level": null,
"aa_start": 279,
"aa_end": null,
"aa_length": 693,
"cds_start": 835,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001350121.2"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.751G>T",
"hgvs_p": "p.Val251Leu",
"transcript": "ENST00000953791.1",
"protein_id": "ENSP00000623850.1",
"transcript_support_level": null,
"aa_start": 251,
"aa_end": null,
"aa_length": 665,
"cds_start": 751,
"cds_end": null,
"cds_length": 1998,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000953791.1"
},
{
"aa_ref": "V",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "c.574G>T",
"hgvs_p": "p.Val192Leu",
"transcript": "ENST00000878447.1",
"protein_id": "ENSP00000548506.1",
"transcript_support_level": null,
"aa_start": 192,
"aa_end": null,
"aa_length": 606,
"cds_start": 574,
"cds_end": null,
"cds_length": 1821,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000878447.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "n.*542G>T",
"hgvs_p": null,
"transcript": "ENST00000458729.5",
"protein_id": "ENSP00000393825.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458729.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 1,
"exon_rank_end": null,
"exon_count": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "n.25G>T",
"hgvs_p": null,
"transcript": "ENST00000475955.1",
"protein_id": null,
"transcript_support_level": 4,
"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": "ENST00000475955.1"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"hgvs_c": "n.*542G>T",
"hgvs_p": null,
"transcript": "ENST00000458729.5",
"protein_id": "ENSP00000393825.1",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000458729.5"
}
],
"gene_symbol": "SEMA3C",
"gene_hgnc_id": 10725,
"dbsnp": "rs1527482",
"frequency_reference_population": 0.0000022446823,
"hom_count_reference_population": 0,
"allele_count_reference_population": 3,
"gnomad_exomes_af": 0.00000224468,
"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": 0.8097634315490723,
"computational_prediction_selected": "Pathogenic",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.44,
"revel_prediction": "Uncertain_significance",
"alphamissense_score": 0.6497,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.1,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 6.157,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0.01,
"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,PP3",
"acmg_by_gene": [
{
"score": 3,
"benign_score": 0,
"pathogenic_score": 3,
"criteria": [
"PM2",
"PP3"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001350120.2",
"gene_symbol": "SEMA3C",
"hgnc_id": 10725,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.1063G>T",
"hgvs_p": "p.Val355Leu"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}