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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: 21-34521508-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=21&pos=34521508&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "21",
"pos": 34521508,
"ref": "G",
"alt": "A",
"effect": "synonymous_variant",
"transcript": "ENST00000313806.9",
"consequences": [
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Leu193Leu",
"transcript": "NM_004414.7",
"protein_id": "NP_004405.3",
"transcript_support_level": null,
"aa_start": 193,
"aa_end": null,
"aa_length": 252,
"cds_start": 577,
"cds_end": null,
"cds_length": 759,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": "ENST00000313806.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Leu193Leu",
"transcript": "ENST00000313806.9",
"protein_id": "ENSP00000320768.4",
"transcript_support_level": 1,
"aa_start": 193,
"aa_end": null,
"aa_length": 252,
"cds_start": 577,
"cds_end": null,
"cds_length": 759,
"cdna_start": 679,
"cdna_end": null,
"cdna_length": 2503,
"mane_select": "NM_004414.7",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000381132.6",
"protein_id": "ENSP00000370524.2",
"transcript_support_level": 1,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 412,
"cds_end": null,
"cds_length": 594,
"cdna_start": 626,
"cdna_end": null,
"cdna_length": 2408,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Leu112Leu",
"transcript": "ENST00000399272.5",
"protein_id": "ENSP00000382214.1",
"transcript_support_level": 1,
"aa_start": 112,
"aa_end": null,
"aa_length": 171,
"cds_start": 334,
"cds_end": null,
"cds_length": 516,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2164,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "ENST00000443408.6",
"protein_id": "ENSP00000392438.2",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2315,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "ENST00000482533.5",
"protein_id": "ENSP00000419624.1",
"transcript_support_level": 1,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 904,
"cdna_end": null,
"cdna_length": 2686,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "n.494C>T",
"hgvs_p": null,
"transcript": "ENST00000489903.1",
"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": 2276,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288711",
"gene_hgnc_id": null,
"hgvs_c": "n.478C>T",
"hgvs_p": null,
"transcript": "ENST00000684114.1",
"protein_id": "ENSP00000507841.1",
"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": 847,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Leu218Leu",
"transcript": "NM_001285391.2",
"protein_id": "NP_001272320.2",
"transcript_support_level": null,
"aa_start": 218,
"aa_end": null,
"aa_length": 277,
"cds_start": 652,
"cds_end": null,
"cds_length": 834,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2529,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.652C>T",
"hgvs_p": "p.Leu218Leu",
"transcript": "ENST00000381135.7",
"protein_id": "ENSP00000370527.4",
"transcript_support_level": 2,
"aa_start": 218,
"aa_end": null,
"aa_length": 277,
"cds_start": 652,
"cds_end": null,
"cds_length": 834,
"cdna_start": 705,
"cdna_end": null,
"cdna_length": 2526,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.547C>T",
"hgvs_p": "p.Leu183Leu",
"transcript": "ENST00000481448.5",
"protein_id": "ENSP00000417926.1",
"transcript_support_level": 5,
"aa_start": 183,
"aa_end": null,
"aa_length": 242,
"cds_start": 547,
"cds_end": null,
"cds_length": 729,
"cdna_start": 1034,
"cdna_end": null,
"cdna_length": 2816,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Leu",
"transcript": "NM_001331016.2",
"protein_id": "NP_001317945.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 205,
"cds_start": 412,
"cds_end": null,
"cds_length": 618,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Leu",
"transcript": "ENST00000492600.1",
"protein_id": "ENSP00000477155.1",
"transcript_support_level": 2,
"aa_start": 138,
"aa_end": null,
"aa_length": 205,
"cds_start": 412,
"cds_end": null,
"cds_length": 618,
"cdna_start": 487,
"cdna_end": null,
"cdna_length": 935,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.412C>T",
"hgvs_p": "p.Leu138Leu",
"transcript": "NM_203418.3",
"protein_id": "NP_981963.1",
"transcript_support_level": null,
"aa_start": 138,
"aa_end": null,
"aa_length": 197,
"cds_start": 412,
"cds_end": null,
"cds_length": 594,
"cdna_start": 485,
"cdna_end": null,
"cdna_length": 2309,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.334C>T",
"hgvs_p": "p.Leu112Leu",
"transcript": "NM_001285389.2",
"protein_id": "NP_001272318.1",
"transcript_support_level": null,
"aa_start": 112,
"aa_end": null,
"aa_length": 171,
"cds_start": 334,
"cds_end": null,
"cds_length": 516,
"cdna_start": 382,
"cdna_end": null,
"cdna_length": 2206,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "NM_001285392.2",
"protein_id": "NP_001272321.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 499,
"cdna_end": null,
"cdna_length": 2323,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "NM_001285393.2",
"protein_id": "NP_001272322.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2260,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "NM_203417.2",
"protein_id": "NP_981962.1",
"transcript_support_level": null,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 494,
"cdna_end": null,
"cdna_length": 2318,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "ENST00000487990.5",
"protein_id": "ENSP00000419252.1",
"transcript_support_level": 2,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 738,
"cdna_end": null,
"cdna_length": 2520,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "L",
"aa_alt": "L",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "c.172C>T",
"hgvs_p": "p.Leu58Leu",
"transcript": "ENST00000620920.4",
"protein_id": "ENSP00000477646.1",
"transcript_support_level": 4,
"aa_start": 58,
"aa_end": null,
"aa_length": 117,
"cds_start": 172,
"cds_end": null,
"cds_length": 354,
"cdna_start": 436,
"cdna_end": null,
"cdna_length": 2257,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 2,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "n.76C>T",
"hgvs_p": null,
"transcript": "ENST00000487434.1",
"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": 300,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"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": 1,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"hgvs_c": "n.1610C>T",
"hgvs_p": null,
"transcript": "ENST00000609325.1",
"protein_id": null,
"transcript_support_level": 6,
"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": 2047,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288711",
"gene_hgnc_id": null,
"hgvs_c": "n.555C>T",
"hgvs_p": null,
"transcript": "ENST00000682732.1",
"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,
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"cdna_length": 922,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 3,
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"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000288711",
"gene_hgnc_id": null,
"hgvs_c": "n.412C>T",
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"transcript": "ENST00000684541.1",
"protein_id": "ENSP00000508287.1",
"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": 923,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
}
],
"gene_symbol": "RCAN1",
"gene_hgnc_id": 3040,
"dbsnp": null,
"frequency_reference_population": null,
"hom_count_reference_population": 0,
"allele_count_reference_population": 0,
"gnomad_exomes_af": null,
"gnomad_genomes_af": null,
"gnomad_exomes_ac": null,
"gnomad_genomes_ac": null,
"gnomad_exomes_homalt": null,
"gnomad_genomes_homalt": null,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": -0.4300000071525574,
"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
"splice_score_selected": 0,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": null,
"revel_prediction": null,
"alphamissense_score": null,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.43,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 4.38,
"phylop100way_prediction": "Uncertain_significance",
"spliceai_max_score": 0,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000313806.9",
"gene_symbol": "RCAN1",
"hgnc_id": 3040,
"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.577C>T",
"hgvs_p": "p.Leu193Leu"
},
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000684114.1",
"gene_symbol": "ENSG00000288711",
"hgnc_id": null,
"effects": [
"non_coding_transcript_exon_variant"
],
"inheritance_mode": "",
"hgvs_c": "n.478C>T",
"hgvs_p": null
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}