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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-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=7&pos=80798214&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"message": null,
"variants": [
{
"acmg_by_gene": [
{
"benign_score": 20,
"criteria": [
"PP3",
"BP4_Strong",
"BP6_Very_Strong",
"BA1"
],
"effects": [
"missense_variant"
],
"gene_symbol": "SEMA3C",
"hgnc_id": 10725,
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Val355Met",
"inheritance_mode": "AR",
"pathogenic_score": 1,
"score": -19,
"transcript": "NM_001350120.2",
"verdict": "Benign"
}
],
"acmg_classification": "Benign",
"acmg_criteria": "PP3,BP4_Strong,BP6_Very_Strong,BA1",
"acmg_score": -19,
"allele_count_reference_population": 18706,
"alphamissense_prediction": null,
"alphamissense_score": 0.7772,
"alt": "T",
"apogee2_prediction": null,
"apogee2_score": null,
"bayesdelnoaf_prediction": "Uncertain_significance",
"bayesdelnoaf_score": 0.04,
"chr": "7",
"clinvar_classification": "Benign",
"clinvar_disease": "SEMA3C-related disorder,not provided",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:2",
"computational_prediction_selected": "Benign",
"computational_score_selected": 0.005048602819442749,
"computational_source_selected": "MetaRNN",
"consequences": [
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_006379.5",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "ENST00000265361.8",
"protein_coding": true,
"protein_id": "NP_006370.1",
"strand": false,
"transcript": "NM_006379.5",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": true,
"cdna_end": null,
"cdna_length": 4874,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000265361.8",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": "NM_006379.5",
"protein_coding": true,
"protein_id": "ENSP00000265361.3",
"strand": false,
"transcript": "ENST00000265361.8",
"transcript_support_level": 1
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 809,
"aa_ref": "V",
"aa_start": 395,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5360,
"cdna_start": 1759,
"cds_end": null,
"cds_length": 2430,
"cds_start": 1183,
"consequences": [
"missense_variant"
],
"exon_count": 20,
"exon_rank": 13,
"exon_rank_end": null,
"feature": "ENST00000953788.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1183G>A",
"hgvs_p": "p.Val395Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623847.1",
"strand": false,
"transcript": "ENST00000953788.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 790,
"aa_ref": "V",
"aa_start": 376,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4882,
"cdna_start": 1279,
"cds_end": null,
"cds_length": 2373,
"cds_start": 1126,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000953787.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1126G>A",
"hgvs_p": "p.Val376Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623846.1",
"strand": false,
"transcript": "ENST00000953787.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 769,
"aa_ref": "V",
"aa_start": 355,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4775,
"cdna_start": 1172,
"cds_end": null,
"cds_length": 2310,
"cds_start": 1063,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "NM_001350120.2",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1063G>A",
"hgvs_p": "p.Val355Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337049.1",
"strand": false,
"transcript": "NM_001350120.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 754,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4883,
"cdna_start": 1271,
"cds_end": null,
"cds_length": 2265,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878448.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548507.1",
"strand": false,
"transcript": "ENST00000878448.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 2415,
"cdna_start": 1142,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000419255.6",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000411193.2",
"strand": false,
"transcript": "ENST00000419255.6",
"transcript_support_level": 2
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5203,
"cdna_start": 1600,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000878446.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548505.1",
"strand": false,
"transcript": "ENST00000878446.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4995,
"cdna_start": 1392,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000878449.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548508.1",
"strand": false,
"transcript": "ENST00000878449.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 5044,
"cdna_start": 1444,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "ENST00000953794.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623853.1",
"strand": false,
"transcript": "ENST00000953794.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 751,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4680,
"cdna_start": 1079,
"cds_end": null,
"cds_length": 2256,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953795.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623854.1",
"strand": false,
"transcript": "ENST00000953795.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 750,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4910,
"cdna_start": 1311,
"cds_end": null,
"cds_length": 2253,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953790.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623849.1",
"strand": false,
"transcript": "ENST00000953790.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
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"aa_length": 749,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4988,
"cdna_start": 1391,
"cds_end": null,
"cds_length": 2250,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953789.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623848.1",
"strand": false,
"transcript": "ENST00000953789.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 738,
"aa_ref": "V",
"aa_start": 337,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4816,
"cdna_start": 1253,
"cds_end": null,
"cds_length": 2217,
"cds_start": 1009,
"consequences": [
"missense_variant"
],
"exon_count": 18,
"exon_rank": 11,
"exon_rank_end": null,
"feature": "ENST00000953792.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.1009G>A",
"hgvs_p": "p.Val337Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623851.1",
"strand": false,
"transcript": "ENST00000953792.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 711,
"aa_ref": "V",
"aa_start": 297,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4732,
"cdna_start": 1131,
"cds_end": null,
"cds_length": 2136,
"cds_start": 889,
"consequences": [
"missense_variant"
],
"exon_count": 17,
"exon_rank": 10,
"exon_rank_end": null,
"feature": "ENST00000953793.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.889G>A",
"hgvs_p": "p.Val297Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623852.1",
"strand": false,
"transcript": "ENST00000953793.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 693,
"aa_ref": "V",
"aa_start": 279,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4962,
"cdna_start": 1359,
"cds_end": null,
"cds_length": 2082,
"cds_start": 835,
"consequences": [
"missense_variant"
],
"exon_count": 19,
"exon_rank": 12,
"exon_rank_end": null,
"feature": "NM_001350121.2",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.835G>A",
"hgvs_p": "p.Val279Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "NP_001337050.1",
"strand": false,
"transcript": "NM_001350121.2",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 665,
"aa_ref": "V",
"aa_start": 251,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4617,
"cdna_start": 1014,
"cds_end": null,
"cds_length": 1998,
"cds_start": 751,
"consequences": [
"missense_variant"
],
"exon_count": 16,
"exon_rank": 9,
"exon_rank_end": null,
"feature": "ENST00000953791.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.751G>A",
"hgvs_p": "p.Val251Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000623850.1",
"strand": false,
"transcript": "ENST00000953791.1",
"transcript_support_level": null
},
{
"aa_alt": "M",
"aa_end": null,
"aa_length": 606,
"aa_ref": "V",
"aa_start": 192,
"biotype": "protein_coding",
"canonical": false,
"cdna_end": null,
"cdna_length": 4520,
"cdna_start": 917,
"cds_end": null,
"cds_length": 1821,
"cds_start": 574,
"consequences": [
"missense_variant"
],
"exon_count": 14,
"exon_rank": 7,
"exon_rank_end": null,
"feature": "ENST00000878447.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "c.574G>A",
"hgvs_p": "p.Val192Met",
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": true,
"protein_id": "ENSP00000548506.1",
"strand": false,
"transcript": "ENST00000878447.1",
"transcript_support_level": null
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458729.5",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "n.*542G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": "ENSP00000393825.1",
"strand": false,
"transcript": "ENST00000458729.5",
"transcript_support_level": 2
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "pseudogene",
"canonical": false,
"cdna_end": null,
"cdna_length": 383,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_count": 2,
"exon_rank": 1,
"exon_rank_end": null,
"feature": "ENST00000475955.1",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
"hgvs_c": "n.25G>A",
"hgvs_p": null,
"intron_rank": null,
"intron_rank_end": null,
"mane_plus": null,
"mane_select": null,
"protein_coding": false,
"protein_id": null,
"strand": false,
"transcript": "ENST00000475955.1",
"transcript_support_level": 4
},
{
"aa_alt": null,
"aa_end": null,
"aa_length": null,
"aa_ref": null,
"aa_start": null,
"biotype": "nonsense_mediated_decay",
"canonical": false,
"cdna_end": null,
"cdna_length": 1318,
"cdna_start": null,
"cds_end": null,
"cds_length": null,
"cds_start": null,
"consequences": [
"3_prime_UTR_variant"
],
"exon_count": 9,
"exon_rank": 8,
"exon_rank_end": null,
"feature": "ENST00000458729.5",
"gene_hgnc_id": 10725,
"gene_symbol": "SEMA3C",
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"protein_coding": false,
"protein_id": "ENSP00000393825.1",
"strand": false,
"transcript": "ENST00000458729.5",
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}
],
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"effect": "missense_variant",
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"pathogenicity_classification_combined": "Benign",
"phenotype_combined": "not provided|SEMA3C-related disorder",
"phylop100way_prediction": "Uncertain_significance",
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"pos": 80798214,
"ref": "C",
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"splice_prediction_selected": "Benign",
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"splice_source_selected": "max_spliceai",
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}
]
}