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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: 17-35106466-T-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=17&pos=35106466&ref=T&alt=A&genome=hg38&allGenes=true"
API Response
json
{
"variants": [
{
"chr": "17",
"pos": 35106466,
"ref": "T",
"alt": "A",
"effect": "missense_variant",
"transcript": "ENST00000345365.11",
"consequences": [
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Arg166Trp",
"transcript": "NM_002878.4",
"protein_id": "NP_002869.3",
"transcript_support_level": null,
"aa_start": 166,
"aa_end": null,
"aa_length": 328,
"cds_start": 496,
"cds_end": null,
"cds_length": 987,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "ENST00000345365.11",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Arg166Trp",
"transcript": "ENST00000345365.11",
"protein_id": "ENSP00000338790.6",
"transcript_support_level": 1,
"aa_start": 166,
"aa_end": null,
"aa_length": 328,
"cds_start": 496,
"cds_end": null,
"cds_length": 987,
"cdna_start": 743,
"cdna_end": null,
"cdna_length": 9966,
"mane_select": "NM_002878.4",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.361A>T",
"hgvs_p": "p.Arg121Trp",
"transcript": "ENST00000586186.3",
"protein_id": "ENSP00000468273.3",
"transcript_support_level": 1,
"aa_start": 121,
"aa_end": null,
"aa_length": 283,
"cds_start": 361,
"cds_end": null,
"cds_length": 852,
"cdna_start": 489,
"cdna_end": null,
"cdna_length": 3336,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.19A>T",
"hgvs_p": "p.Arg7Trp",
"transcript": "ENST00000593039.5",
"protein_id": "ENSP00000466834.1",
"transcript_support_level": 2,
"aa_start": 7,
"aa_end": null,
"aa_length": 272,
"cds_start": 19,
"cds_end": null,
"cds_length": 819,
"cdna_start": 219,
"cdna_end": null,
"cdna_length": 1638,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Arg54Trp",
"transcript": "ENST00000335858.11",
"protein_id": "ENSP00000338408.6",
"transcript_support_level": 1,
"aa_start": 54,
"aa_end": null,
"aa_length": 216,
"cds_start": 160,
"cds_end": null,
"cds_length": 651,
"cdna_start": 292,
"cdna_end": null,
"cdna_length": 1353,
"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": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*318A>T",
"hgvs_p": null,
"transcript": "ENST00000585343.5",
"protein_id": "ENSP00000465007.1",
"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": 603,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*227A>T",
"hgvs_p": null,
"transcript": "ENST00000586044.5",
"protein_id": "ENSP00000465584.1",
"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": 1571,
"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": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*90A>T",
"hgvs_p": null,
"transcript": "ENST00000586210.5",
"protein_id": "ENSP00000465612.1",
"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": 1194,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*101A>T",
"hgvs_p": null,
"transcript": "ENST00000592850.5",
"protein_id": "ENSP00000468724.1",
"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": 386,
"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": 3,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.182A>T",
"hgvs_p": null,
"transcript": "ENST00000592928.2",
"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": 207,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*318A>T",
"hgvs_p": null,
"transcript": "ENST00000585343.5",
"protein_id": "ENSP00000465007.1",
"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": 603,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*227A>T",
"hgvs_p": null,
"transcript": "ENST00000586044.5",
"protein_id": "ENSP00000465584.1",
"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": 1571,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*90A>T",
"hgvs_p": null,
"transcript": "ENST00000586210.5",
"protein_id": "ENSP00000465612.1",
"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": 1194,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.*101A>T",
"hgvs_p": null,
"transcript": "ENST00000592850.5",
"protein_id": "ENSP00000468724.1",
"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": 386,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.556A>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "NM_001142571.2",
"protein_id": "NP_001136043.1",
"transcript_support_level": null,
"aa_start": 186,
"aa_end": null,
"aa_length": 348,
"cds_start": 556,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 701,
"cdna_end": null,
"cdna_length": 9924,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.556A>T",
"hgvs_p": "p.Arg186Trp",
"transcript": "ENST00000590016.6",
"protein_id": "ENSP00000466399.1",
"transcript_support_level": 2,
"aa_start": 186,
"aa_end": null,
"aa_length": 348,
"cds_start": 556,
"cds_end": null,
"cds_length": 1047,
"cdna_start": 803,
"cdna_end": null,
"cdna_length": 10026,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.496A>T",
"hgvs_p": "p.Arg166Trp",
"transcript": "ENST00000394589.8",
"protein_id": "ENSP00000378090.4",
"transcript_support_level": 5,
"aa_start": 166,
"aa_end": null,
"aa_length": 328,
"cds_start": 496,
"cds_end": null,
"cds_length": 987,
"cdna_start": 635,
"cdna_end": null,
"cdna_length": 2287,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 7,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.160A>T",
"hgvs_p": "p.Arg54Trp",
"transcript": "NM_133629.3",
"protein_id": "NP_598332.1",
"transcript_support_level": null,
"aa_start": 54,
"aa_end": null,
"aa_length": 216,
"cds_start": 160,
"cds_end": null,
"cds_length": 651,
"cdna_start": 305,
"cdna_end": null,
"cdna_length": 9528,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.139A>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000587405.6",
"protein_id": "ENSP00000466478.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 209,
"cds_start": 139,
"cds_end": null,
"cds_length": 630,
"cdna_start": 424,
"cdna_end": null,
"cdna_length": 1444,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "c.139A>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000592577.6",
"protein_id": "ENSP00000466839.2",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 209,
"cds_start": 139,
"cds_end": null,
"cds_length": 630,
"cdna_start": 516,
"cdna_end": null,
"cdna_length": 2082,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "R",
"aa_alt": "W",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000267618",
"gene_hgnc_id": null,
"hgvs_c": "c.139A>T",
"hgvs_p": "p.Arg47Trp",
"transcript": "ENST00000592181.1",
"protein_id": "ENSP00000464799.1",
"transcript_support_level": 5,
"aa_start": 47,
"aa_end": null,
"aa_length": 203,
"cds_start": 139,
"cds_end": null,
"cds_length": 612,
"cdna_start": 314,
"cdna_end": null,
"cdna_length": 787,
"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": 6,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.646A>T",
"hgvs_p": null,
"transcript": "ENST00000415064.6",
"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": 986,
"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": 4,
"exon_rank_end": null,
"exon_count": 4,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RAD51D",
"gene_hgnc_id": 9823,
"hgvs_c": "n.392A>T",
"hgvs_p": null,
"transcript": "ENST00000585947.5",
"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,
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}