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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: 22-38736378-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=22&pos=38736378&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "22",
"pos": 38736378,
"ref": "G",
"alt": "C",
"effect": "splice_region_variant,synonymous_variant",
"transcript": "NM_001394427.1",
"consequences": [
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ala681Ala",
"transcript": "NM_015374.3",
"protein_id": "NP_056189.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 717,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000689035.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_015374.3"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ala681Ala",
"transcript": "ENST00000689035.1",
"protein_id": "ENSP00000508608.1",
"transcript_support_level": null,
"aa_start": 681,
"aa_end": null,
"aa_length": 717,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_015374.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000689035.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Ala702Ala",
"transcript": "ENST00000405018.5",
"protein_id": "ENSP00000385616.1",
"transcript_support_level": 1,
"aa_start": 702,
"aa_end": null,
"aa_length": 738,
"cds_start": 2106,
"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": "ENST00000405018.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2043C>G",
"hgvs_p": "p.Ala681Ala",
"transcript": "ENST00000405510.5",
"protein_id": "ENSP00000385740.1",
"transcript_support_level": 1,
"aa_start": 681,
"aa_end": null,
"aa_length": 717,
"cds_start": 2043,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405510.5"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2139C>G",
"hgvs_p": "p.Ala713Ala",
"transcript": "ENST00000956730.1",
"protein_id": "ENSP00000626789.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 749,
"cds_start": 2139,
"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": "ENST00000956730.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2139C>G",
"hgvs_p": "p.Ala713Ala",
"transcript": "ENST00000956735.1",
"protein_id": "ENSP00000626794.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 749,
"cds_start": 2139,
"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": "ENST00000956735.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2139C>G",
"hgvs_p": "p.Ala713Ala",
"transcript": "ENST00000956751.1",
"protein_id": "ENSP00000626810.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 749,
"cds_start": 2139,
"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": "ENST00000956751.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2136C>G",
"hgvs_p": "p.Ala712Ala",
"transcript": "NM_001394427.1",
"protein_id": "NP_001381356.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 748,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394427.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2136C>G",
"hgvs_p": "p.Ala712Ala",
"transcript": "ENST00000956736.1",
"protein_id": "ENSP00000626795.1",
"transcript_support_level": null,
"aa_start": 712,
"aa_end": null,
"aa_length": 748,
"cds_start": 2136,
"cds_end": null,
"cds_length": 2247,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956736.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2109C>G",
"hgvs_p": "p.Ala703Ala",
"transcript": "ENST00000956744.1",
"protein_id": "ENSP00000626803.1",
"transcript_support_level": null,
"aa_start": 703,
"aa_end": null,
"aa_length": 739,
"cds_start": 2109,
"cds_end": null,
"cds_length": 2220,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956744.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Ala702Ala",
"transcript": "NM_001199579.2",
"protein_id": "NP_001186508.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 738,
"cds_start": 2106,
"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_001199579.2"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Ala702Ala",
"transcript": "NM_001394428.1",
"protein_id": "NP_001381357.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 738,
"cds_start": 2106,
"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_001394428.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2106C>G",
"hgvs_p": "p.Ala702Ala",
"transcript": "ENST00000956739.1",
"protein_id": "ENSP00000626798.1",
"transcript_support_level": null,
"aa_start": 702,
"aa_end": null,
"aa_length": 738,
"cds_start": 2106,
"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": "ENST00000956739.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103C>G",
"hgvs_p": "p.Ala701Ala",
"transcript": "ENST00000870844.1",
"protein_id": "ENSP00000540903.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 737,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870844.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103C>G",
"hgvs_p": "p.Ala701Ala",
"transcript": "ENST00000870850.1",
"protein_id": "ENSP00000540909.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 737,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870850.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2103C>G",
"hgvs_p": "p.Ala701Ala",
"transcript": "ENST00000956749.1",
"protein_id": "ENSP00000626808.1",
"transcript_support_level": null,
"aa_start": 701,
"aa_end": null,
"aa_length": 737,
"cds_start": 2103,
"cds_end": null,
"cds_length": 2214,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956749.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2088C>G",
"hgvs_p": "p.Ala696Ala",
"transcript": "NM_001394429.1",
"protein_id": "NP_001381358.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 732,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394429.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2088C>G",
"hgvs_p": "p.Ala696Ala",
"transcript": "NM_001394430.1",
"protein_id": "NP_001381359.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 732,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001394430.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 18,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2088C>G",
"hgvs_p": "p.Ala696Ala",
"transcript": "ENST00000956732.1",
"protein_id": "ENSP00000626791.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 732,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956732.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2088C>G",
"hgvs_p": "p.Ala696Ala",
"transcript": "ENST00000956737.1",
"protein_id": "ENSP00000626796.1",
"transcript_support_level": null,
"aa_start": 696,
"aa_end": null,
"aa_length": 732,
"cds_start": 2088,
"cds_end": null,
"cds_length": 2199,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000956737.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "SUN2",
"gene_hgnc_id": 14210,
"hgvs_c": "c.2067C>G",
"hgvs_p": "p.Ala689Ala",
"transcript": "ENST00000870852.1",
"protein_id": "ENSP00000540911.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 725,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2178,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000870852.1"
},
{
"aa_ref": "A",
"aa_alt": "A",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"splice_region_variant",
"synonymous_variant"
],
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"BP6_Moderate",
"BP7"
],
"verdict": "Likely_benign",
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{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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},
{
"score": -4,
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"pathogenic_score": 2,
"criteria": [
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000418803.1",
"gene_symbol": "ENSG00000230149",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.85+1564G>C",
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},
{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
"transcript": "ENST00000420118.1",
"gene_symbol": "ENSG00000244491",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.317+1337G>C",
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},
{
"score": -4,
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"BP4_Strong",
"BP6_Moderate"
],
"verdict": "Likely_benign",
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"effects": [
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],
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}
],
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"clinvar_classification": "Likely benign",
"clinvar_review_status": "criteria provided, single submitter",
"clinvar_submissions_summary": "LB:1",
"phenotype_combined": "Emery-Dreifuss muscular dystrophy",
"pathogenicity_classification_combined": "Likely benign",
"custom_annotations": null
}
],
"message": null
}