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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: 16-725084-G-A (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=16&pos=725084&ref=G&alt=A&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "16",
"pos": 725084,
"ref": "G",
"alt": "A",
"effect": "missense_variant",
"transcript": "NM_001378030.1",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "NM_001378030.1",
"protein_id": "NP_001364959.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 470,
"cds_start": 554,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "ENST00000345165.10",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378030.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000345165.10",
"protein_id": "ENSP00000316851.5",
"transcript_support_level": 5,
"aa_start": 185,
"aa_end": null,
"aa_length": 470,
"cds_start": 554,
"cds_end": null,
"cds_length": 1413,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1585,
"mane_select": "NM_001378030.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000345165.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000293889.10",
"protein_id": "ENSP00000293889.6",
"transcript_support_level": 1,
"aa_start": 185,
"aa_end": null,
"aa_length": 438,
"cds_start": 554,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 660,
"cdna_end": null,
"cdna_length": 1611,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000293889.10"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000947033.1",
"protein_id": "ENSP00000617092.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 482,
"cds_start": 554,
"cds_end": null,
"cds_length": 1449,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1617,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947033.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000947032.1",
"protein_id": "ENSP00000617091.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 480,
"cds_start": 554,
"cds_end": null,
"cds_length": 1443,
"cdna_start": 633,
"cdna_end": null,
"cdna_length": 1619,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000947032.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000853033.1",
"protein_id": "ENSP00000523092.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 462,
"cds_start": 554,
"cds_end": null,
"cds_length": 1389,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1569,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853033.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.521C>T",
"hgvs_p": "p.Thr174Met",
"transcript": "ENST00000853031.1",
"protein_id": "ENSP00000523090.1",
"transcript_support_level": null,
"aa_start": 174,
"aa_end": null,
"aa_length": 459,
"cds_start": 521,
"cds_end": null,
"cds_length": 1380,
"cdna_start": 612,
"cdna_end": null,
"cdna_length": 1567,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853031.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000853036.1",
"protein_id": "ENSP00000523095.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 445,
"cds_start": 554,
"cds_end": null,
"cds_length": 1338,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1501,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853036.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "NM_001031737.3",
"protein_id": "NP_001026907.2",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 438,
"cds_start": 554,
"cds_end": null,
"cds_length": 1317,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1581,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001031737.3"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000853035.1",
"protein_id": "ENSP00000523094.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 428,
"cds_start": 554,
"cds_end": null,
"cds_length": 1287,
"cdna_start": 639,
"cdna_end": null,
"cdna_length": 1464,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853035.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.386C>T",
"hgvs_p": "p.Thr129Met",
"transcript": "ENST00000853032.1",
"protein_id": "ENSP00000523091.1",
"transcript_support_level": null,
"aa_start": 129,
"aa_end": null,
"aa_length": 414,
"cds_start": 386,
"cds_end": null,
"cds_length": 1245,
"cdna_start": 483,
"cdna_end": null,
"cdna_length": 1431,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853032.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "NM_001378031.1",
"protein_id": "NP_001364960.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 410,
"cds_start": 554,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1405,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378031.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "ENST00000853034.1",
"protein_id": "ENSP00000523093.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 410,
"cds_start": 554,
"cds_end": null,
"cds_length": 1233,
"cdna_start": 636,
"cdna_end": null,
"cdna_length": 1411,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000853034.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.989C>T",
"hgvs_p": "p.Thr330Met",
"transcript": "XM_011522357.2",
"protein_id": "XP_011520659.1",
"transcript_support_level": null,
"aa_start": 330,
"aa_end": null,
"aa_length": 639,
"cds_start": 989,
"cds_end": null,
"cds_length": 1920,
"cdna_start": 1065,
"cdna_end": null,
"cdna_length": 2092,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522357.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.956C>T",
"hgvs_p": "p.Thr319Met",
"transcript": "XM_011522360.2",
"protein_id": "XP_011520662.1",
"transcript_support_level": null,
"aa_start": 319,
"aa_end": null,
"aa_length": 628,
"cds_start": 956,
"cds_end": null,
"cds_length": 1887,
"cdna_start": 1032,
"cdna_end": null,
"cdna_length": 2059,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522360.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 12,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "XM_006720838.2",
"protein_id": "XP_006720901.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 568,
"cds_start": 776,
"cds_end": null,
"cds_length": 1707,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1879,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720838.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 5,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.776C>T",
"hgvs_p": "p.Thr259Met",
"transcript": "XM_047433602.1",
"protein_id": "XP_047289558.1",
"transcript_support_level": null,
"aa_start": 259,
"aa_end": null,
"aa_length": 544,
"cds_start": 776,
"cds_end": null,
"cds_length": 1635,
"cdna_start": 852,
"cdna_end": null,
"cdna_length": 1807,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433602.1"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 11,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.608C>T",
"hgvs_p": "p.Thr203Met",
"transcript": "XM_011522368.2",
"protein_id": "XP_011520670.1",
"transcript_support_level": null,
"aa_start": 203,
"aa_end": null,
"aa_length": 512,
"cds_start": 608,
"cds_end": null,
"cds_length": 1539,
"cdna_start": 684,
"cdna_end": null,
"cdna_length": 1711,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_011522368.2"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.554C>T",
"hgvs_p": "p.Thr185Met",
"transcript": "XM_006720843.5",
"protein_id": "XP_006720906.1",
"transcript_support_level": null,
"aa_start": 185,
"aa_end": null,
"aa_length": 494,
"cds_start": 554,
"cds_end": null,
"cds_length": 1485,
"cdna_start": 630,
"cdna_end": null,
"cdna_length": 1657,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006720843.5"
},
{
"aa_ref": "T",
"aa_alt": "M",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 13,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.101C>T",
"hgvs_p": "p.Thr34Met",
"transcript": "XM_047433606.1",
"protein_id": "XP_047289562.1",
"transcript_support_level": null,
"aa_start": 34,
"aa_end": null,
"aa_length": 343,
"cds_start": 101,
"cds_end": null,
"cds_length": 1032,
"cdna_start": 586,
"cdna_end": null,
"cdna_length": 1613,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047433606.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 4,
"exon_rank_end": null,
"exon_count": 10,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.192C>T",
"hgvs_p": "p.Asp64Asp",
"transcript": "NM_001378033.1",
"protein_id": "NP_001364962.1",
"transcript_support_level": null,
"aa_start": 64,
"aa_end": null,
"aa_length": 281,
"cds_start": 192,
"cds_end": null,
"cds_length": 846,
"cdna_start": 509,
"cdna_end": null,
"cdna_length": 1259,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001378033.1"
},
{
"aa_ref": "D",
"aa_alt": "D",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 9,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "CCDC78",
"gene_hgnc_id": 14153,
"hgvs_c": "c.1080C>T",
"hgvs_p": "p.Asp360Asp",
"transcript": "XM_011522356.2",
"protein_id": "XP_011520658.1",
"transcript_support_level": null,
"aa_start": 360,
"aa_end": null,
"aa_length": 643,
"cds_start": 1080,
"cds_end": null,
"cds_length": 1932,
"cdna_start": 1156,
"cdna_end": null,
"cdna_length": 2104,
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"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:2",
"phenotype_combined": "Congenital myopathy with internal nuclei and atypical cores|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
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}
],
"message": null
}