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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: 9-89376952-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=9&pos=89376952&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "9",
"pos": 89376952,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001142287.2",
"consequences": [
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.*1752C>T",
"hgvs_p": null,
"transcript": "ENST00000450295.5",
"protein_id": "ENSP00000416523.1",
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": 862,
"cds_start": null,
"cds_end": null,
"cds_length": 2589,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000450295.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "NM_001142287.2",
"protein_id": "NP_001135759.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "NM_001142287.2"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "NM_001371198.1",
"protein_id": "NP_001358127.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "NM_001371198.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "NM_001371199.1",
"protein_id": "NP_001358128.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "NM_001371199.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "NM_001371200.1",
"protein_id": "NP_001358129.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "NM_001371200.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "NM_001371201.1",
"protein_id": "NP_001358130.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "NM_001371201.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "ENST00000339861.8",
"protein_id": "ENSP00000344923.4",
"transcript_support_level": 5,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "ENST00000339861.8"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "ENST00000420987.5",
"protein_id": "ENSP00000391733.1",
"transcript_support_level": 5,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "ENST00000420987.5"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "ENST00000455551.6",
"protein_id": "ENSP00000411981.2",
"transcript_support_level": 5,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "ENST00000455551.6"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "NM_001371202.1",
"protein_id": "NP_001358131.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 683,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2052,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001371202.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 24,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422620.1",
"protein_id": "XP_047278576.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 794,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422620.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422621.1",
"protein_id": "XP_047278577.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 794,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422621.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422622.1",
"protein_id": "XP_047278578.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 794,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422622.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422623.1",
"protein_id": "XP_047278579.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 794,
"cds_start": 1763,
"cds_end": null,
"cds_length": 2385,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422623.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422624.1",
"protein_id": "XP_047278580.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "XM_047422624.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"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": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422625.1",
"protein_id": "XP_047278581.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "XM_047422625.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422626.1",
"protein_id": "XP_047278582.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "XM_047422626.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 16,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422627.1",
"protein_id": "XP_047278583.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "XM_047422627.1"
},
{
"aa_ref": "P",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1763C>T",
"hgvs_p": "p.Pro588Leu",
"transcript": "XM_047422628.1",
"protein_id": "XP_047278584.1",
"transcript_support_level": null,
"aa_start": 588,
"aa_end": null,
"aa_length": 738,
"cds_start": 1763,
"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": "XM_047422628.1"
},
{
"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": 18,
"intron_rank": 17,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "c.1446+9415C>T",
"hgvs_p": null,
"transcript": "XM_047422629.1",
"protein_id": "XP_047278585.1",
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": 548,
"cds_start": null,
"cds_end": null,
"cds_length": 1647,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047422629.1"
},
{
"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": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "n.331C>T",
"hgvs_p": null,
"transcript": "ENST00000492386.5",
"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": null,
"mane_select": null,
"mane_plus": null,
"biotype": "retained_intron",
"feature": "ENST00000492386.5"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA4D",
"gene_hgnc_id": 10732,
"hgvs_c": "n.2174C>T",
"hgvs_p": null,
"transcript": "NR_163889.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
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],
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"computational_prediction_selected": "Benign",
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"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.021,
"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.7,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 1.646,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
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"acmg_score": -9,
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"acmg_by_gene": [
{
"score": -9,
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"criteria": [
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"BP6",
"BS2"
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"verdict": "Benign",
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"effects": [
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"inheritance_mode": "",
"hgvs_c": "c.1763C>T",
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],
"clinvar_disease": "SEMA4D-related disorder",
"clinvar_classification": "Likely benign",
"clinvar_review_status": "no assertion criteria provided",
"clinvar_submissions_summary": "null",
"phenotype_combined": "SEMA4D-related disorder",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}