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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: 3-50274469-C-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=50274469&ref=C&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 50274469,
"ref": "C",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000616701.5",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1244C>A",
"hgvs_p": "p.Thr415Asn",
"transcript": "NM_001290060.2",
"protein_id": "NP_001276989.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 749,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": "ENST00000616701.5",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1244C>A",
"hgvs_p": "p.Thr415Asn",
"transcript": "ENST00000616701.5",
"protein_id": "ENSP00000484146.1",
"transcript_support_level": 1,
"aa_start": 415,
"aa_end": null,
"aa_length": 749,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1338,
"cdna_end": null,
"cdna_length": 3184,
"mane_select": "NM_001290060.2",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Thr420Asn",
"transcript": "ENST00000611067.4",
"protein_id": "ENSP00000480680.1",
"transcript_support_level": 1,
"aa_start": 420,
"aa_end": null,
"aa_length": 754,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1286,
"cdna_end": null,
"cdna_length": 2292,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1241C>A",
"hgvs_p": "p.Thr414Asn",
"transcript": "ENST00000433753.4",
"protein_id": "ENSP00000485281.1",
"transcript_support_level": 1,
"aa_start": 414,
"aa_end": null,
"aa_length": 748,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1313,
"cdna_end": null,
"cdna_length": 2755,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"transcript": "ENST00000456560.6",
"protein_id": "ENSP00000485646.1",
"transcript_support_level": 1,
"aa_start": 72,
"aa_end": null,
"aa_length": 406,
"cds_start": 215,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 756,
"cdna_end": null,
"cdna_length": 2221,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.1240C>A",
"hgvs_p": null,
"transcript": "ENST00000441915.5",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2710,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1259C>A",
"hgvs_p": "p.Thr420Asn",
"transcript": "NM_001290061.1",
"protein_id": "NP_001276990.1",
"transcript_support_level": null,
"aa_start": 420,
"aa_end": null,
"aa_length": 754,
"cds_start": 1259,
"cds_end": null,
"cds_length": 2265,
"cdna_start": 1339,
"cdna_end": null,
"cdna_length": 2810,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1244C>A",
"hgvs_p": "p.Thr415Asn",
"transcript": "NM_001435956.1",
"protein_id": "NP_001422885.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 749,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1943,
"cdna_end": null,
"cdna_length": 3408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1244C>A",
"hgvs_p": "p.Thr415Asn",
"transcript": "NM_004636.4",
"protein_id": "NP_004627.1",
"transcript_support_level": null,
"aa_start": 415,
"aa_end": null,
"aa_length": 749,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1442,
"cdna_end": null,
"cdna_length": 3288,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1244C>A",
"hgvs_p": "p.Thr415Asn",
"transcript": "ENST00000618865.4",
"protein_id": "ENSP00000481957.1",
"transcript_support_level": 5,
"aa_start": 415,
"aa_end": null,
"aa_length": 749,
"cds_start": 1244,
"cds_end": null,
"cds_length": 2250,
"cdna_start": 1486,
"cdna_end": null,
"cdna_length": 2925,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1241C>A",
"hgvs_p": "p.Thr414Asn",
"transcript": "NM_001005914.3",
"protein_id": "NP_001005914.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 748,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1439,
"cdna_end": null,
"cdna_length": 3285,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 14,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1241C>A",
"hgvs_p": "p.Thr414Asn",
"transcript": "NM_001435957.1",
"protein_id": "NP_001422886.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 748,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 1940,
"cdna_end": null,
"cdna_length": 3405,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 15,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.1241C>A",
"hgvs_p": "p.Thr414Asn",
"transcript": "NM_001435958.1",
"protein_id": "NP_001422887.1",
"transcript_support_level": null,
"aa_start": 414,
"aa_end": null,
"aa_length": 748,
"cds_start": 1241,
"cds_end": null,
"cds_length": 2247,
"cdna_start": 3042,
"cdna_end": null,
"cdna_length": 4507,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"transcript": "NM_001290062.2",
"protein_id": "NP_001276991.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 406,
"cds_start": 215,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 726,
"cdna_end": null,
"cdna_length": 2572,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"transcript": "NM_001290063.2",
"protein_id": "NP_001276992.1",
"transcript_support_level": null,
"aa_start": 72,
"aa_end": null,
"aa_length": 406,
"cds_start": 215,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 600,
"cdna_end": null,
"cdna_length": 2446,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "T",
"aa_alt": "N",
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "c.215C>A",
"hgvs_p": "p.Thr72Asn",
"transcript": "ENST00000418576.3",
"protein_id": "ENSP00000485173.1",
"transcript_support_level": 2,
"aa_start": 72,
"aa_end": null,
"aa_length": 406,
"cds_start": 215,
"cds_end": null,
"cds_length": 1221,
"cdna_start": 589,
"cdna_end": null,
"cdna_length": 1765,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.1040C>A",
"hgvs_p": null,
"transcript": "ENST00000419007.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3283,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.533C>A",
"hgvs_p": null,
"transcript": "ENST00000439487.5",
"protein_id": null,
"transcript_support_level": 3,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.377C>A",
"hgvs_p": null,
"transcript": "ENST00000456210.5",
"protein_id": null,
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 2065,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 16,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.1719C>A",
"hgvs_p": null,
"transcript": "ENST00000619119.4",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 3158,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.415C>A",
"hgvs_p": null,
"transcript": "NR_110697.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 1728,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"intron_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": 1,
"intron_rank_end": null,
"gene_symbol": "SEMA3B-AS1",
"gene_hgnc_id": 49096,
"hgvs_c": "n.80-1256G>T",
"hgvs_p": null,
"transcript": "ENST00000736630.1",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": 445,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"upstream_gene_variant"
],
"exon_rank": null,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SEMA3B",
"gene_hgnc_id": 10724,
"hgvs_c": "n.-165C>A",
"hgvs_p": null,
"transcript": "ENST00000416295.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
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},
{
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}
],
"gene_symbol": "SEMA3B",
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"allele_count_reference_population": 1,
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"computational_score_selected": 0.08489623665809631,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.03999999910593033,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.13,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.04,
"spliceai_max_prediction": "Benign",
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"dbscsnv_ada_prediction": null,
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"apogee2_prediction": null,
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"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
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"acmg_by_gene": [
{
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"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000616701.5",
"gene_symbol": "SEMA3B",
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"effects": [
"missense_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.1244C>A",
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},
{
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"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000736630.1",
"gene_symbol": "SEMA3B-AS1",
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"intron_variant"
],
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"hgvs_c": "n.80-1256G>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}