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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: 9-89388673-C-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89388673&ref=C&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 89388673,
"ref": "C",
"alt": "G",
"effect": "missense_variant",
"transcript": "ENST00000422704.7",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371194.2",
"protein_id": "NP_001358123.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": "ENST00000422704.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000422704.7",
"protein_id": "ENSP00000388768.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1574,
"cdna_end": null,
"cdna_length": 4562,
"mane_select": "NM_001371194.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000438547.6",
"protein_id": "ENSP00000405102.2",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000450295.5",
"protein_id": "ENSP00000416523.1",
"transcript_support_level": 1,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1847,
"cdna_end": null,
"cdna_length": 5684,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371195.1",
"protein_id": "NP_001358124.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1532,
"cdna_end": null,
"cdna_length": 4520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371196.1",
"protein_id": "NP_001358125.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1884,
"cdna_end": null,
"cdna_length": 4872,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371197.1",
"protein_id": "NP_001358126.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1761,
"cdna_end": null,
"cdna_length": 4749,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_006378.4",
"protein_id": "NP_006369.3",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 4824,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000356444.6",
"protein_id": "ENSP00000348822.2",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2589,
"cdna_start": 1517,
"cdna_end": null,
"cdna_length": 4503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001142287.2",
"protein_id": "NP_001135759.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 738,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1836,
"cdna_end": null,
"cdna_length": 4598,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371198.1",
"protein_id": "NP_001358127.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 738,
"cds_start": 1070,
"cds_end": null,
"cds_length": 2217,
"cdna_start": 1469,
"cdna_end": null,
"cdna_length": 4231,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371199.1",
"protein_id": "NP_001358128.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 738,
"cds_start": 1070,
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"cds_length": 2217,
"cdna_start": 1761,
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"cdna_length": 4523,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
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"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371200.1",
"protein_id": "NP_001358129.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 738,
"cds_start": 1070,
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"cdna_start": 1884,
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"cdna_length": 4646,
"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371201.1",
"protein_id": "NP_001358130.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000339861.8",
"protein_id": "ENSP00000344923.4",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
"aa_length": 738,
"cds_start": 1070,
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"cdna_start": 1496,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000420987.5",
"protein_id": "ENSP00000391733.1",
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "ENST00000455551.6",
"protein_id": "ENSP00000411981.2",
"transcript_support_level": 5,
"aa_start": 357,
"aa_end": null,
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"cds_start": 1070,
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"cdna_start": 1654,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "NM_001371202.1",
"protein_id": "NP_001358131.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 683,
"cds_start": 1070,
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"cdna_start": 1761,
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"mane_select": null,
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
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"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "XM_011518123.3",
"protein_id": "XP_011516425.1",
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},
{
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "XM_011518124.3",
"protein_id": "XP_011516426.1",
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"feature": null
},
{
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"protein_coding": true,
"strand": false,
"consequences": [
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],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "XM_011518125.2",
"protein_id": "XP_011516427.1",
"transcript_support_level": null,
"aa_start": 357,
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"aa_length": 862,
"cds_start": 1070,
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"cdna_start": 1712,
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"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro",
"transcript": "XM_011518127.3",
"protein_id": "XP_011516429.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 862,
"cds_start": 1070,
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"cdna_start": 1778,
"cdna_end": null,
"cdna_length": 4766,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "P",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
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"acmg_by_gene": [
{
"score": 2,
"benign_score": 0,
"pathogenic_score": 2,
"criteria": [
"PM2"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000422704.7",
"gene_symbol": "SEMA4D",
"hgnc_id": 10732,
"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1070G>C",
"hgvs_p": "p.Arg357Pro"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}