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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: 5-91153323-GGATATGGCCAGGGGTCACT-G (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=5&pos=91153323&ref=GGATATGGCCAGGGGTCACT&alt=G&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "5",
"pos": 91153323,
"ref": "GGATATGGCCAGGGGTCACT",
"alt": "G",
"effect": "frameshift_variant",
"transcript": "ENST00000405460.9",
"consequences": [
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18732_18750delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6244fs",
"transcript": "NM_032119.4",
"protein_id": "NP_115495.3",
"transcript_support_level": null,
"aa_start": 6244,
"aa_end": null,
"aa_length": 6306,
"cds_start": 18732,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 18831,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "ENST00000405460.9",
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": true,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18732_18750delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6244fs",
"transcript": "ENST00000405460.9",
"protein_id": "ENSP00000384582.2",
"transcript_support_level": 1,
"aa_start": 6244,
"aa_end": null,
"aa_length": 6306,
"cds_start": 18732,
"cds_end": null,
"cds_length": 18921,
"cdna_start": 18831,
"cdna_end": null,
"cdna_length": 19557,
"mane_select": "NM_032119.4",
"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": 25,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.5999_6017delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000638510.1",
"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": 6503,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 37,
"exon_rank_end": null,
"exon_count": 38,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.7686_7704delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr2562fs",
"transcript": "ENST00000425867.3",
"protein_id": "ENSP00000392618.3",
"transcript_support_level": 5,
"aa_start": 2562,
"aa_end": null,
"aa_length": 2624,
"cds_start": 7686,
"cds_end": null,
"cds_length": 7875,
"cdna_start": 7686,
"cdna_end": null,
"cdna_length": 8141,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 7,
"exon_rank_end": null,
"exon_count": 8,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.816_834delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr272fs",
"transcript": "ENST00000640815.1",
"protein_id": "ENSP00000491767.1",
"transcript_support_level": 2,
"aa_start": 272,
"aa_end": null,
"aa_length": 334,
"cds_start": 816,
"cds_end": null,
"cds_length": 1005,
"cdna_start": 1017,
"cdna_end": null,
"cdna_length": 1522,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18753_18771delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6251fs",
"transcript": "XM_017009963.3",
"protein_id": "XP_016865452.1",
"transcript_support_level": null,
"aa_start": 6251,
"aa_end": null,
"aa_length": 6313,
"cds_start": 18753,
"cds_end": null,
"cds_length": 18942,
"cdna_start": 18852,
"cdna_end": null,
"cdna_length": 19578,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18750_18768delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6250fs",
"transcript": "XM_017009964.3",
"protein_id": "XP_016865453.1",
"transcript_support_level": null,
"aa_start": 6250,
"aa_end": null,
"aa_length": 6312,
"cds_start": 18750,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 18849,
"cdna_end": null,
"cdna_length": 19575,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18750_18768delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6250fs",
"transcript": "XM_017009965.2",
"protein_id": "XP_016865454.1",
"transcript_support_level": null,
"aa_start": 6250,
"aa_end": null,
"aa_length": 6312,
"cds_start": 18750,
"cds_end": null,
"cds_length": 18939,
"cdna_start": 18868,
"cdna_end": null,
"cdna_length": 19594,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18729_18747delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6243fs",
"transcript": "XM_047417824.1",
"protein_id": "XP_047273780.1",
"transcript_support_level": null,
"aa_start": 6243,
"aa_end": null,
"aa_length": 6305,
"cds_start": 18729,
"cds_end": null,
"cds_length": 18918,
"cdna_start": 18828,
"cdna_end": null,
"cdna_length": 19554,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18672_18690delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6224fs",
"transcript": "XM_017009966.3",
"protein_id": "XP_016865455.1",
"transcript_support_level": null,
"aa_start": 6224,
"aa_end": null,
"aa_length": 6286,
"cds_start": 18672,
"cds_end": null,
"cds_length": 18861,
"cdna_start": 18771,
"cdna_end": null,
"cdna_length": 19497,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18657_18675delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6219fs",
"transcript": "XM_017009967.2",
"protein_id": "XP_016865456.1",
"transcript_support_level": null,
"aa_start": 6219,
"aa_end": null,
"aa_length": 6281,
"cds_start": 18657,
"cds_end": null,
"cds_length": 18846,
"cdna_start": 18756,
"cdna_end": null,
"cdna_length": 19482,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 88,
"exon_rank_end": null,
"exon_count": 89,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.18573_18591delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr6191fs",
"transcript": "XM_017009968.3",
"protein_id": "XP_016865457.1",
"transcript_support_level": null,
"aa_start": 6191,
"aa_end": null,
"aa_length": 6253,
"cds_start": 18573,
"cds_end": null,
"cds_length": 18762,
"cdna_start": 18672,
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"cdna_length": 19398,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": "YGQGSLI",
"aa_alt": null,
"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.11871_11889delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr3957fs",
"transcript": "XM_017009972.2",
"protein_id": "XP_016865461.1",
"transcript_support_level": null,
"aa_start": 3957,
"aa_end": null,
"aa_length": 4019,
"cds_start": 11871,
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"cdna_start": 11958,
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"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": true,
"strand": true,
"consequences": [
"frameshift_variant"
],
"exon_rank": 59,
"exon_rank_end": null,
"exon_count": 60,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "c.11850_11868delTGGCCAGGGGTCACTGATA",
"hgvs_p": "p.Tyr3950fs",
"transcript": "XM_017009973.2",
"protein_id": "XP_016865462.1",
"transcript_support_level": null,
"aa_start": 3950,
"aa_end": null,
"aa_length": 4012,
"cds_start": 11850,
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"cdna_start": 11944,
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"cdna_length": 12670,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*1703_*1721delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000638990.1",
"protein_id": "ENSP00000492781.1",
"transcript_support_level": 5,
"aa_start": null,
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"cds_start": -4,
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"mane_select": null,
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"biotype": null,
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},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.652_670delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000639212.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
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"aa_length": null,
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"cdna_start": null,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 5,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.600_618delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000639530.1",
"protein_id": null,
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 1101,
"mane_select": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"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": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.408_426delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000640256.1",
"protein_id": null,
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"aa_start": null,
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"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*2364_*2382delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
"protein_id": "ENSP00000491425.1",
"transcript_support_level": 5,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"mane_select": null,
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"biotype": null,
"feature": null
},
{
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"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 89,
"exon_rank_end": null,
"exon_count": 90,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.18748_18766delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "NR_003149.2",
"protein_id": null,
"transcript_support_level": null,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": -4,
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"cdna_start": null,
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"cdna_length": 19474,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 13,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*1703_*1721delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000638990.1",
"protein_id": "ENSP00000492781.1",
"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": 2433,
"mane_select": null,
"mane_plus": null,
"biotype": null,
"feature": null
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": true,
"consequences": [
"3_prime_UTR_variant"
],
"exon_rank": 24,
"exon_rank_end": null,
"exon_count": 25,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ADGRV1",
"gene_hgnc_id": 17416,
"hgvs_c": "n.*2364_*2382delTGGCCAGGGGTCACTGATA",
"hgvs_p": null,
"transcript": "ENST00000640407.1",
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{
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{
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"verdict": "Likely_pathogenic",
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"effects": [
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{
"score": 8,
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],
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"clinvar_classification": "Pathogenic/Likely pathogenic",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "P:1 LP:1",
"phenotype_combined": "Usher syndrome type 2C|not provided",
"pathogenicity_classification_combined": "Pathogenic/Likely pathogenic",
"custom_annotations": null
}
],
"message": null
}